Publications

The following are publications, articles or reports related to 22q11.2 research. The International 22q11.2 Foundation only posts content from reputable researchers or research institutions. In cases where summaries or overviews are provided, they are written for us or reviewed by our scientific and clinical advisors or other members of the 22q research community. Whenever possible, we will provide a link to a more detailed source of information for those who wish to understand the more technical aspects of the research findings.

Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome

Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome

Gathering the Stakeholder’s Perspective: Experiences and Opportunities in Rare Genetic Disease Research

Gathering the Stakeholder’s Perspective: Experiences and Opportunities in Rare Genetic Disease Research by Lauren K. White,T. Blaine Crowley, Brenda Finucane, Emily J. McClellan, Sarah Donoghue, Sixto Garcia-Minaur, Gabriela M. Repetto, Matthias Fischer, Sebastien Jacquemont , Raquel E. Gur, Anne M. Maillard, Kirsten A. Donald, Anne S. Bassett, Ann Swillen, and Donna M. McDonald-McGinn

Genes 2023, 14(1), 169; https://doi.org/10.3390/genes14010169

We are delighted to share that opinions from individuals affected by chromosome differences, particularly the 22q11.2 deletion syndrome, and their families, about whether or not they would like to participate in research studies and why, have been obtained, analyzed and published in the Special Issue on 22q11.2 Deletion by the Swiss journal Genes! Lead authors included International 22q11.2 Foundation Board/Medical Advisory Board Members, Profs. Donna McDonald-McGinn, Anne Bassett, and Ann Swillen, amongst others – all members of the Genes to Mental Health Network (G2MH) funded by the United States National Institutes of Health! The results, from 704 individuals across 29 countries, revealed that initial participation in research related to education and an interest in helping others. Reasons for leaving a research study included treatment risks and side effects. The importance of sharing research findings and laboratory results was stressed by participants. Most respondents reported positive research experiences. Thus, this study provides important insight into how individuals and families affected by chromosome differences feel toward research participation and their overall experience in rare disease research. Key findings from this international survey may help advance collaborative research and improve the experience of participants, investigators, and families moving forward – something the International 22q11.2 Foundation is happy to support as well!

Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions

Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions by Natalie Blagowidow, Beata Nowakowska, Erica Schindewolf, Francesca Romana Grati, Carolina Putotto, Jeroen Breckpot, Ann Swillen, Terrence Blaine Crowley, Joanne C. Y. Loo, Lauren A. Lairson, Sólveig Óskarsdóttir, Erik Boot, Sixto Garcia-Minaur, Maria Cristina Digilio, Bruno Marino, Beverly Coleman, Julie S. Moldenhauer, Anne S. Bassett and Donna M. McDonald-McGinn

Clinical Practice Guidelines for Immunological Management of Chromosome 22q11.2 Deletion Syndrome

Peter J. Mustillo, Kathleen E. Sullivan, Ivan K. Chinn, Luigi D. Notarangelo, Elie Haddad, E. Graham Davies, Maria Teresa de la Morena, Nicholas Hartog, Joyce E. Yu, Vivian P. Hernandez-Trujillo, Winnie Ip, Jose Franco, Eleonora Gambineri, Scott E. Hickey, Elizabeth Varga & M. Louise Markert

J Clin Immunol (2023). https://doi.org/10.1007/s10875-022-01418-y

Current practices vary widely regarding the immunological work-up and management of patients affected with defects in the development of the thymus and thus affecting persons response to infection. These conditions include chromosome 22q11.2 deletion syndrome and other causes of DiGeorge syndrome, as well as CHARGE syndrome (coloboma, heart defect, atresia choanae, retardation of growth and development, genital hypoplasia, ear anomalies/deafness) due to mutations in a gene (CHD7) on chromosome 8. Practice variations affect the initial and subsequent assessment of immune function, the terminology used to describe the condition and immune status, the accepted criteria for recommending live vaccines, and how often follow-up is needed based on the degree of immune problems. The lack of consensus and widely varying practices highlight the need to establish updated immunological clinical practice guidelines. The International 22q11.2 Foundation is delighted to share such recommendations have now been developed, in part by a member of our Medical Advisory Board, Prof. Kathleen Sullivan, providing a comprehensive review for immunologists and other clinicians who manage immune aspects of this group of conditions.

Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study

2023: Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study

Early language measures associated with later psychosis features in 22q11.2 deletion syndrome

A paper entitled “Early language measures associated with later psychosis features in 22q11.2 deletion syndrome” was recently published in the American Journal of Medical Genetics by Cynthia Solot, Donna McDonald‐McGinn and Raquel Gur and their teams at the Children’s Hospital of Philadelphia (CHOP) and the University of Pennsylvania’s Perelman School of Medicine in Philadelphia, Pennsylvania, USA. This work has the potential to identify youngsters with 22q11.2 deletion syndrome who may have an increased risk of developing psychiatric illness later in life, with the goal of providing earlier interventions. Read on!

Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management

We are delighted to share a recent ground-breaking best practices management paper regarding speech and language in children with 22q11.2 deletion syndrome. This manuscript was developed as part of an ongoing consensus effort between practitioners in the United States, the United Kingdom, and Sweden. The paper describes the often complex communication differences associated with 22q11.2 deletion syndrome, as well as, evaluation procedures, treatment protocols, and management recommendations. Moreover, the paper stresses the importance of early diagnosis and appropriate management of speech-language differences in children with 22q11.2 deletion syndrome as essential to optimizing outcomes and minimizing the long-term effects of communication impairments. To view complete article click here.

Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency

New article published by 2 of our very own medical advisory board members in Immunology Journal supports our advocacy work related to newborn screening for 22q. Newborn Screening for a disease called SCID (Severe Combined Immunodeficiency) is picking up infants with 22q in infancy but those without immune problems are being missed leading to an average age of diagnosis closer to 4 years old. This is why we must continue to advocate for Newborn Screening specifically for 22q so no child goes undetected. Early diagnosis supports better long term outcome. To view complete article click here.

Genetic Drivers of Kidney Defects in the 22q11.2 Deletion Syndrome

A collaborative group of researchers recently reported an important link between three genes within the 22q11.2 deletion and development of the kidney and urinary tract. The loss of one gene in particular, Crkl, alone is enough to cause kidney differences. The researchers found that a small percentage of patients followed in kidney clinics for small or absent kidneys actually had the 22q11.2 deletion. Although these patients were unaware that they had the 22q, some later reported having symptoms commonly associated with the 22q11.2 deletion. Significantly, this serves to highlight the frequency of the deletion and the fact that there are likely many many patients in our own communities who have not yet been diagnosed with 22q11.2 deletion syndrome due to the fact that they don’t have congenital heart disease as a presenting symptom. This report certainly helps to support our plea for early identification using newborn screening! To view the complete article click here.

International 22q Brain Behavior Consortium

The International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome is a large scale effort among 22 clinical institutions and 5 genetics focused centers across North America, Europe, Australia and South America, led by The Children’s Hospital of Philadelphia (CHOP) and the Perelman School of Medicine at the University of Pennsylvania (Penn). Click here to read more.

22q11.2 deletion syndrome: Disease Primer from nature REVIEWS

22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic recombination events occurring in approximately 1 in every 1,000 fetuses. Read more http://www.nature.com/articles/nrdp201571

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9,500 pregnancies: June 2015

A recently released paper examining the results of a study involving 9,500 pregnant women in Europe, by a group of eminent European researchers, found the 22q deletion and duplication to occur in as many as 1 in 1000 births. This is a significant increase in the estimated prevalence of 22q11.2 deletion and duplication syndromes and translates to approximately 320,000 Americans and over 6 million worldwide and represents the most accurate figures to date. Click here to read more.

Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome: August 2011

This 2011 article in the Journal of Pediatrics, while written primarily for professionals, provides families with a highly descriptive diagnostic and treatment description. Families may wish to share it with their child’s treatment and intervention professionals. Click here to read more.

American Cleft Palate Association Scholarship

The International 22q11.2 Foundation, along with the former VCFS Foundation, was pleased to help provide the American Cleft Palate Association’s VCFS/22q11.2 DS college scholarship to a very deserving individual who, though diagnosed with Velo-Cardio-Facial Syndrome, has persevered, accomplished great things, and is poised to do even more! See below to read Caitlin’s biography. Congratulations Caitlin!

About Caitlin

At age five I was diagnosed with Velo-Cardio-Facial Syndrome and underwent surgery at age six to correct my soft palate dysfunction. I had several years of speech therapy that helped correct the pre-surgery deficiencies.

I will be attending college and plan to study music. I envision being a collaborative pianist for professional soloists and groups. Since beginning piano at age 5, I have continued playing and performing for many venues and groups. In addition, I have played on drumline in marching band, as well as playing marimba for concert band throughout high school. I also had leadership roles in band. I was an active member of my high school Future Business Leaders of America club and competed in regional competition for our chapter.

I regularly accompany a local children’s choir. Working with the kids has been fun, but also challenging (at times) to keep them focused! As you can see, music has played an important role in my life, and I look forward to what the future holds for me.

Experiences and Knowledge of Siblings of Children with 22Q (2014)

In 2013, families in the 22q community were asked to participate in a University of North Carolina and Duke University research survey regarding the siblings of those with 22q. We are pleased to report that the results of that study were published in the Journal of Genetic Counseling. The conclusion of that study included, “While the majority of parents who participated in this study communicated medical and behavioral information, genetic information was communicated less often. Consequently, siblings scored high on medical and behavioral knowledge but had lower scores on genetic information knowledge. This study indicates a discrepancy in the communication and understanding of genetic information compared to communication and understanding of behavioral and medical information among unaffected siblings of children with 22q11DS. Healthcare professionals, including genetic counselors, can help develop age-appropriate print and online resources for siblings that discuss genetic information and reproductive risks as well as the medical management and future care of a child with 22q11DS.” The full article can be seen here.

Study finds that a subset of children often considered to have autism may be misdiagnosed

“Children with a genetic disorder called 22q11.2 deletion syndrome, who frequently are believed to also have autism, often may be misidentified because the social impairments associated with their developmental delay may mimic the features of autism, a study by researchers with the UC Davis MIND Institute suggests. The study is the first to examine autism in children with chromosome 22q11.2 deletion syndrome, in whom the prevalence of autism has been reported at between 20 and 50 percent, using rigorous gold-standard diagnostic criteria. The research found that none of the children with 22q11.2 deletion syndrome “met strict diagnostic criteria” for autism. The researchers said the finding is important because treatments designed for children with autism, such as widely used discrete-trial training methods, may exacerbate the anxiety that is commonplace among the population.” The full article can be seen here.

Practical guidelines for managing adults with 22q11.2 deletion syndrome: August 2015

Informed by an international panel of multidisciplinary experts and a comprehensive review of the existing literature concerning adults, this is the first set of guidelines focused on managing the neuropsychiatric, endocrine, cardiovascular, reproductive, psychosocial, genetic counseling, and other issues in adults with 22q. There are practical strategies for the recognition, evaluation, surveillance, and management of these issues. The full article can be seen here.

Psychiatric Disorders From Childhood to Adulthood in 22q11.2 Deletion Syndrome

Results From the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome

Summary: The first paper published from the International 22q11.2 Brain and Behavior Consortium (IBBC) was accepted in December 2013 and available to the public shortly thereafter. Although it was a baby step towards fulfilling the main goal of the Consortium – to better understand the brain and behavior in those individuals with the 22q11.2 deletion syndrome (22q11.2DS) and ultimately lead to better ascertainment of at-risk persons as well as developing better intervention strategies – it was a major leap towards bringing the world’s best and brightest minds together to help understand the one feature of the condition that is often the most scary for families, psychiatric illness. Importantly, the paper reported findings on 1,402 patients, ages 6-68 years of age, which would never have occurred without the establishment of the IBBC. Notable findings included ADHD, anxiety disorders and psychosis which validated previous studies suggesting that the 22q11.2 deletion is associated with these conditions and conversely that the 22q11.2DS will provide insight into better understanding these behavioral differences. Moreover, these results highlight the need to monitor for these associated conditions as early intervention leads to better long-term outcome.

About the Consortium: The International 22q11.2DS Brain and Behavior Consortium is a large-scale effort to study the genetics of schizophrenia and other psychiatric disorders associated with chromosome 22q11.2 deletions. With 12 million dollars in support over four years from The National Institute of Mental Health of the National Institutes of Health in the United States of America, this multi-center initiative is examining phenotypes across the life span while utilizing whole genome sequencing in search of phenotype-genotype correlations with the ultimate goals of improving detection, treatment and long-term outcomes. Professor Raquel Gur, overall Co-Director of the Consortium stated, “The funding from the NIH will provide us with the opportunity to advance the understanding of this under-recognized neurogenetic condition. The knowledge generated can provide a window to the brain that will benefit millions throughout the world.” Beyond the potential for yielding a better understanding of a severe manifestation of 22q11.2 deletion syndrome, the results will help identify pathways leading to schizophrenia in the general population in a way that will inform novel treatments. There is a substantial risk for developing psychotic illness in approximately 25 to 30 percent of adolescents and young adults with 22q11.2 deletion syndrome. The illness presentation and course are similar to those of schizophrenia, which occurs in the general population at a much lower rate (about 1 percent). The collaborating Consortium sites have extensive experience in applying integrative genomic and brain-behavior strategies to study individuals with 22q11.2 deletion syndrome and schizophrenia across the lifespan, and together will have provided data on 1,000 genetically and phenotypically characterized individuals with the syndrome: the largest such available sample to date. The genomic efforts will include whole-genome sequencing in order to uncover genetic variation that may contribute to the heterogeneity of neuropsychiatric and neurobehavioral phenotypes of schizophrenia and psychosis. “The project is an unprecedented international initiative to examine a common deletion associated with schizophrenia and elucidate its genomic and behavioral substrates,” noted Dr. Gur. Professor Donna McDonald-McGinn, overall Co-Director of the Consortium, added further, “Not only does this successful grant application demonstrate the genuine commitment on the part of the National Institute of Mental Health to better understand the brain and psychiatric illness, but it highlights the need for such international partnerships. In this instance, 22 clinical and 5 basic science collaborating sites, all with extremely dedicated clinicians and researchers who have overcome the challenges of differing cultures, languages, time zones, and healthcare systems, are working toward the common goal of improving patient care and long-term outcome.” More information.

Scholarly Articles for 22q11.2 Duplication Syndrome

The following are publications, articles or reports related to 22q11.2 duplication research. The International 22q11.2 Foundation only posts content from reputable researchers or research institutions. In cases where summaries or overviews are provided, they are written for us or reviewed by our scientific and clinical advisors or other members of the 22q research community. Whenever possible, we will provide a link to a more detailed source of information for those who wish to understand the more technical aspects of the research findings.

The Intrafamilial Variability of the 22q11.2 Microduplication Encompasses a Spectrum from Minor Cognitive Deficits to Severe Congenital Anomalies

The Intrafamilial Variability of the 22q11.2 Microduplication Encompasses a Spectrum from Minor Cognitive Deficits to Severe Congenital Anomalies

This article investigates and reports on the wide variability seen between families with the 22q11.2 Duplication Syndrome.

A Benign Polymorphism or a Syndrome With a Very Large Clinical Variability and Reduced Penetrance? —Report of Two Families

A Benign Polymorphism or a Syndrome With a Very Large Clinical Variability and Reduced Penetrance? —Report of Two Families.

This article investigates and reports on the variability seen between two families with the 22q11.2 Duplication Syndrome.

Clinical variability of the 22q11.2 duplication syndrome

The 22q11.2 duplication syndrome is an extremely variable disorder with a phenotype ranging from normal to learning disability and congenital defects. Both patients with a de novo 22q11.2 duplication and patients in whom the duplication has been inherited from a phenotypically normal parent have been reported.

Ocular Manifestations of 22q11.2 Microduplication

Ocular manifestations of the 22q11.2 duplication syndrome are examined in this paper in addition to investigation of the specific genes involved.

Characterization of the past and current duplication activities in the human 22q11.2 region

To understand the duplication activity leading to the complicated structure in the 22q11.2 region, the investigators have decomposed duplication sequences termed subunits. Analysis of primate genomes gives information about how recently these subunits emerged in addition to how actively they have expanded and confirms their role in mediating recombination events.

Bibliographies of 22q

Find useful research resources by selecting a topic below.

Last updated fall 2015

Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

Bassett, A.S., McDonald-McGinn, D.M., Devriendt, K., Digilio, M.C., Goldenberg, P., Habel, A., Marino, B., Oskarsdottir, S., Philip, N., Sullivan, K., Swillen, A., Vorstman, J., and The International 22q11.2 Deletion Syndrome Consortium. (2011). Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome. J Peds, 159(2), 332-339.

Cardiology

Alikaşifoğlu, M., Malkoç, N., Ceviz, N., Ozme, S., Uludoğan, S., & Tunçbilek, E. (2000). Microdeletion of 22q11 (CATCH 22) in children with conotruncal heart defect and extracardiac malformations. Turk J Pediatrics, 42(3), 215-8.

Awasthy, N., & Khatri, S. (2013). Treatable Cause of Ventricular Dysfunction in DiGeorge Syndrome. Indian Pediatr, 50, 855.

Bawle, E.V., Conard, J., Van Dyke, D.L., Czarnecki, P., & Driscoll, D.A. (1998). Seven New cases of Cayler Cardiofacial Syndrome with Chromosome 22q11.2 Deletion, Including a Familial Case. Am J Med Genetics, 79(5), 406-410.

Borgmann, S., Luhmer, I., Arslan-Kirchner, M., Kallfelz, H.C., & Schmidtke, J. (1999). A Search for Chromosome 22q11.2 Deletions in a Series of 176 Consecutively Catheterized Patients with Congenital Heart Disease: No Evidence for Deletions in Non-syndromic Patients. Eur J Ped., 158(12), 958-963.

Boudjemline, Y., Fermont, L., Le Bidois, J., Lyonnet, S., Sidi, D., & Bonnet, D. (2001). Prevalence of the 22q11 deletion in fetuses with conotruncal cardiac defects: A 6-year prospective study. Journal of Pediatrics, 138(4), 520-4.

Camen, A., Marinescu, D., & Camen, G. C. (2013). 22q11 DELETION SYNDROME–VULNERABILITY FOR CARDIAC ABNORMALITIES AND PSYCHOTIC DISORDERS: AN INTERDISCIPLINARY APPROACH.ROMANIAN JOURNAL OF PSYCHOPHARMACOLOGY, 13, 120-125.

Choudhry, P., & Trede, N. S. (2013). DiGeorge Syndrome Gene tbx1 Functions through wnt11r to Regulate Heart Looping and Differentiation. PloS one, 8(3), e58145.

Digilio, M. C., Luca, A. D., Lepri, F., Guida, V., Ferese, R., Dentici, M. L., … & Dallapiccola, B. (2013). JAG1 Mutation in a patient with deletion 22q11. 2 syndrome and tetralogy of Fallot. American Journal of Medical Genetics Part A, 161(12), 3133-3136.

Duke C. & Chan K.C. (2001). Isolated Innominate Artery in 22q11 Microdeletion. Pediatr Cardiology, 22(1), 80-82.

Fokstuen, S., Arbenz, U., Artan, S., Dutly, F., Bauersfeld, U., Brecevic, L.,Schinzel, A. (1998). 22q11.2 Deletions in a Series of Patients with Non-Selective Congenital Heart Defects: Incidence, Type of Defects andParental Origin. Clin Genet, 53(1), 63-69.

Forrester, S., Kovach, M.J., Smith, R.E., Rimer, L., Wesson, M., & Kimonis, V.E. (2002). Kousseff Syndrome Caused by Deletion of Chromosome 22q11-13. Am J Med Genetics, 112(4), 338-342.

Ganji, H., Salehi, M., Sedghi, M., Abdali, H., Nouri, N., Sadri, L., … & Lotfi, M. (2013). Investigation of TBX1 gene deletion in Iranian children with 22q11. 2 deletion syndrome: correlation with conotruncal heart defects. Heart Asia, 5(1), 200-202.

Giray, O., Ulgenalp, A., Bora, E., Saylam, G. S., Unal, N., Mese T.,…Ercal, D. (2003). Congenital cardiac defects with 22q11 deletion. Turkish Journal of Pediatrics, 45(3), 217-220.

Goldmuntz, E., Driscoll, D. A., Emanuel, B. S., McDonald-McGinn, D., Mei, M., Zackai, E., & Mitchell, L.E. (2009) Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome. Birth Defects Res A Clin Mol Teratol, 85(2), 125-9.

Hofbeck, M., Leipold, G., Rauch, A., Buheitel, G., & Singer, H. (1999). Clinical Relevance of Monosomy 22q11.2 in Children with Pulmonary Atresia and Ventricular Septal Defect. Eur J Pediatrics, 158(4), 302-307.

Jacobson, Z., Glickstein, J., Hensle, T. & Marion, R. W. (1998). Further delineation of the Opitz G/BBB syndrome: report of an infant with complex congenital heart disease and bladder exstrophy, and review of the literature. Am J Med Genet, 78(3), 294-9.

John, A. S., McDonald-McGinn, D. M., Zackai, E. H., & Goldmuntz, E. (2009) Aortic root dilation in patients with 22q11.2 deletion syndrome. Am J Med Genet, 149A(5), 939-42.

Johnson, M., Gentry, L., Rice, G., & Mount, D. (2009). A Case of Congenitally Absent Left Internal Carotid Artery: Vascular Malformations in 22q11.2 Deletion Syndrome. Cleft Palate Craniofacial Journal, [Epub ahead of print].

Johnson, M.C., Strauss, A.W., Dowton, S.B., Spray, T.L., Huddleston, C.B., Wood, M.K.,…Watson MS. (1995). Deletion within chromosome 22 is common in patients with absent pulmonary valve syndrome. Am J Cardiology, 76(1), 66-9.

Kessler-Icekson, G., Birk, E., Weintraub, A.Y., Barhum, Y., Kotlyar, V., Schlesinger, H.,…Frisch, A. (2002). Association of Tetralogy of Fallot with a distinct region of del22q11.2. Am J Med Genet, 107(4), 294-8.

Lascone, M, R. (2001). Complex conotruncal heart defect, severe bleeding disorder and 22q11 deletion: a new case of Bernard-Soulier syndrome and of 22q11 deletion syndrome? Ital Heart Journal, 2(6), 475-7.

Lindsay, E.A., Rizzu, P., Antonacci, R., Jurecic, V., Delmas-Mata, J., Lee, C.C., Baldini, A. (1996). A transcription map in the CATCH22 critical region: identification, mapping, and ordering of four novel transcripts expressed in heart. Genomics, 32(1), 104-12.

Maeda, J., Yamagishi, H., Matsuoka, R., Ishihara, J., Tokumura, M., Fukushima, H., Kojima, Y. (2000). Frequent association of 22q11.2 deletion with tetralogy of fallot. Am J Med Genet, 92(4), 269-72.

Marble, M., Morava, E., Lopez, R., Pierce, M., & Pierce, R. (1998). Report of a New Patient with Transposition of the Great Arteries With Deletion of 22q11.2. American Journal of Medical Genetics, 78(4), 317-318.

Marino, B., Digilio, M.C., Novelli, G., Giannotti, A., & Dallapiccola, B.. (1997). Tricuspid Atresia and 22q11 Deletion. Marino B, et al. Am J Med Genet, 72(1), 40-42.

Marino, B., Digilio, M.C., Toscano, A., & Dallapiccola, B. (2000). Deficiency of the infundibular septum in patients with interrupted aortic arch and del 22q11. Cardiol Young, 10(4), 428-9.

Marino, B., Digilio, M.C., Persiani, M., Di Donato, R., Toscano, A., Giannotti, A., Dallapiccola, B. (1999). Deletion 22q11 in Patients with Interrupted Aortic Arch. Am J Cardiology, 84(3), 360-361.

Matsuoka, R., Takao, A., Kimura, M., Imamura, S., Kondo, C., Joh-o, K.,…Momma, K. (1994). Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2. American Journal of Medical Genetics, 53(3), 285-9.

McDonald, R., Dodgen, A., Goyal, S., Gossett, J. M., Shinkawa, T., Uppu, S. C., … & Gupta, P. (2013). Impact of 22q11. 2 Deletion on the Postoperative Course of Children After Cardiac Surgery. Pediatric cardiology, 1-7.

McElhinney, D. B., Clark, B. J., Weinberg, P. M., Kenton, M. L., McDonald-McGinn, D., Driscoll, D. A.,….Goldmuntz, E. (2001). Association of Chromosome 22q11 Deletion with Isolated Anomalies of Aortic Arch Laterality and Branching. Pediatric Cardiology, 37(8), 2114-9.

McElhinney, D. B., et al. (2001). Association of Chromosome 22q11 Deletion With Isolated Anomalies of Aortic Arch Laterily and Branching. Journal of the American College of Cardiology, 37(8), 2114-2119.

McElhinney, D.B., McDonald-McGinn, D., Zackai, E.H., Goldmuntz, E. (2001). Cardiovascular Anomalies in Patients Diagnosed with a Chromosome 22q11 Deletion Beyond 6 Months of Age. Pediatrics, 108(6), E104.

Momma, K., Matsuoka, R., & Takao A,. (1999). Aortic Arch Anomalies Associated with Chromosome 22q11 Deletion (CATCH 22). Pediatr Cardiology, 20(2), 97-102.

Nakagawa, M., Okamoto, N., Fujino, H., Watanabe, N., Okuno, M. (2000). Tetracuspid aortic valve in a patient with 22q11.2 microdeletion. Am J Med Genetics, 93(1), 74-5.

Oh, D.C., Min, J.Y., Lee, M.H., Kim, Y.M., Park, S.Y., Won, H.S.,…Ryu, H.M. (2002). Prenatal Diagnosis of Tetralogy of Fallot Associated with Chromosome 22q11 Deletion. J Korean Med Science, 17(1), 125-8.

Peyvandi, S., Lupo, P. J., Garbarini, J., Woyciechowski, S., Edman, S., Emanuel, B. S., … & Goldmuntz, E. (2013). 22q11. 2 Deletions in Patients with Conotruncal Defects: Data from 1,610 Consecutive Cases. Pediatric cardiology,1-8.

Puder, K.S., Humes, R.A., Gold, R.L., Bawle, E.V., & Goyert, G.L. (1995). The genetic implication for preceding generations of the prenataldiagnosis of interrupted aortic arch in association with unsuspected DiGeorge anomaly. Am J Obstet Gynecology, 173(1), 239-41.

Rai, B., Mallick, D., Thapa, R., & Biswas, B. (2014). Cayler cardiofacial syndrome with situs inversus totalis. European journal of pediatrics, 1-4.

Rauch, A., Hofbeck, M., Bähring, S., Leipold, G., Trautmann, U., Singer, H., & Pfeiffer, R.A. (1998). Monozygotic Twins Concordant for Cayler Syndrome. Am J Med Genetics, 75(1),113-117.

Rauch, A., Hofbeck, M., Leipold, G., Klinge, J., Trautmann, U., Kirsch, M., Singer, H., & Pfeiffer, R.A. (1998). Incidence and Significance of 22q11.2 Hemizygosity in Patients with Interrupted Aortic Arch. Am J Med Genetics, 78(4), 322-331.

Raymond, F.L., Simpson, J.M., Mackie, M., & Sharland, G.K. (1997). Prenatal Diagnosis of 22q11 deletions: a Series of Five Cases with Congenital Heart Defects. J Med Genetics, 34(8), 679-682.

Saliba Z, Le Bidois J, Sidi D., Kachaner J, and Bonnet D. (1999). Prenatal Detection of a Tetralogy of Fallot with origin of the Left Pulmonary Artery from the Ascending Aorta in a Familial 22q11 Microdeletion. Prenatal Diagnosis, 19(3), 260-262.

Seaver, L.H., Pierpont, J.W., Erickson, R.P., Donnerstein, R.L., & Cassidy, S.B. (1994). Pulmonary atresia associated with maternal 22q11.2 deletion: possible parent of origin effect in the conotruncal anomaly face syndrome. Journal of Medical Genetics, 31(11), 830-4.

Shashi, V., Berry, M.N., & Hines, M.H. (2003). Vasomotor Instability in Neonates with Chromosome 22q11 Deletion Syndrome. Am J Med Genetics, 121A(3), 231-234.

Velagaleti, G.V., Kumar, A., Lockhart, L.H., & Matalon, R. (2000). Patent ductus arteriosis and microdeletion 22q11 in a patient with Klinefelter Syndrome. Ann Genetics, 43(2),105-107.

Volpe, P., Marasini, M., Caruso, G., & Gentile, M. (2002). Prenatal diagnosis of interruption of the aortic arch and its association with deletion of chromosome 22q11. Ultrasound Obstet Gynecology, 20(4), 327-331.

Worthington, S., Bower, C., Harrop, K., Loh, J., & Walpole, I. (1998). 22q11deletions in patients with conotruncal heart defects..J. Paediatr. Child Health, 34(5), 438-443.

Yamagishi, H., Garg, V., Matsuoka, R., Thomas, T., & Srivastava, D. (1999). A Molecular Pathway Revealing a Genetic Basis for Human Cardiac and Craniofacial Defects. Science, 283(5405), 1158-61.

Yamanaka, S., Tanaka, Y., Kawataki, M., Ijiri, R., Imaizumi, K., & Kurahashi, H. (2000). Chromosome 22q11 deletion complicated by dissecting pulmonary arterial aneurysm and jejunal atresia in an infant. Arch Pathol Lab Med.,124(6), 880-2.

Yi, J. J., Tang, S. X., McDonald‐McGinn, D. M., Calkins, M. E., Whinna, D. A., Souders, M. C., … & Gur, R. E. (2013). Contribution of congenital heart disease to neuropsychiatric outcome in school‐age children with 22q11. 2 deletion syndrome. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.

Yong, D.E., Booth, P., Baruni, J., Massie, D., Stephen, G., Couzin, D., & Dean, J.C. (1999). Chromosome 22q11 Microdeletion and Congenital Heart Disease – a Survey in a Pediatric Population. Eur J Ped., 158(7), 566-570.

Orthopedics

Salehzadeh, F., Jahangiri, S., Bagheri, A., & Habibzadeh, S. (2013).
Digeorge Syndrome and Juvenile Idiopathic Arthritis Association; Case Report and Brief Etiologic Discussion. Iranian Journal of Pediatrics.

Oral and Dental

Kulan, P., Pekiner, F. N., & Akyüz, S. (2013).
Oral Manifestation and Dental Management of CATCH 22 Syndrome. Marmara Dental Journal,
1(1), 46-48.

Ophthalmology

Cordovez, J. A., Capasso, J., Lingao, M. D., Sadagopan, K. A., Spaeth, G. L., Wasserman, B. N., & Levin, A. V. (2014).
Ocular Manifestations of 22q11. 2 Microduplication. Ophthalmology,
121(1), 392-398.

De Niro, J. E., Randhawa, S., & McDonald, H. R. (2013).
Retinal Vascular Tortuosity in Digeorge Syndrome Complicated By Solar Retinopathy. Retinal Cases and Brief Reports.

Reis, L. M., Tyler, R. C., Zori, R., Burgess, J., Mueller, J., & Semina, E. V. (2013).
A Case of 22q11. 2 Deletion Syndrome with Peters Anomaly, Congenital Glaucoma, and Heterozygous Mutation in CYP1B1. Ophthalmic genetics,
(0), 1-3.

Tarlan, B., Kiratli, H., Kiliç, E., Utine, E., & Boduroglu, K. (2013).
A case of 22q11. 2 deletion syndrome with right microphthalmia and left corneal staphyloma. Ophthalmic genetics,
(0), 1-4.

Mouse Models

Vitamin B12 ameliorates the phenotype of a mouse model of DiGeorge syndrome

Oxford Journals – Oxford University Press model of DiGeorge syndrome. Gabriella Lania1,†, Alberto Bresciani2,†, Monica Bisbocci2,. Alessandra Francone2, Vincenza Colonna1, Sergio …

Fuchs, J. C., Zinnamon, F. A., Taylor, R. R., Ivins, S., Scambler, P. J., Forge, A., … & Linden, J. F. (2013).
Hearing Loss in a Mouse Model of 22q11. 2 Deletion Syndrome.
PloS one, 8(11), e80104.

Karpinski, B. A., Maynard, T. M., Fralish, M. S., Nuwayhid, S., Zohn, I., Moody, S. A., & LaMantia, A. S. (2013).
Dysphagia and disrupted cranial nerve development in a mouse model of DiGeorge/22q11 Deletion
Syndrome. Disease models & mechanisms, dmm-012484.

Karpinski, B. A., Maynard, T. M., Fralish, M. S., Nuwayhid, S., Zohn, I., Moody, S. A., & LaMantia, A. S. (2013).
Dysphagia and disrupted cranial nerve development in a mouse model of DiGeorge/22q11 Deletion Syndrome. Disease models & mechanisms, dmm-012484.

Meechan, D. W., Rutz, H. L. H., Fralish, M. S., Maynard, T. M., Rothblat, L. A., & LaMantia, A. S. (2013).Cognitive Ability is Associated with Altered Medial Frontal Cortical Circuits in the LgDel Mouse Model of 22q11. 2DS.Cerebral Cortex, bht308.

Spruijt, N. E., Rana, M. S., Christoffels, V. M., & Mink van der Molen, A. B. (2013).
Exploring a neurogenic basis of velopharyngeal dysfunction in< i> Tbx 1 mutant mice: No difference in volumes of the nucleus ambiguus.International journal of pediatric otorhinolaryngology.

Toritsuka, M., Kimoto, S., Muraki, K., Landek-Salgado, M. A., Yoshida, A., Yamamoto, N., … & Tanigaki, K. (2013).
Deficits in microRNA-mediated Cxcr4/Cxcl12 signaling in neurodevelopmental deficits in a 22q11 deletion syndrome mouse model. Proceedings of the National Academy of Sciences, 110(43), 17552-17557.

Gastrointestinal

Giardino, G., Cirillo, E., Maio, F., Gallo, V., Esposito, T., Naddei, R., … & Pignata, C. (2013).
Gastrointestinal involvement in patients affected with 22q11. 2 deletion syndrome. Scandinavian journal of gastroenterology, (0), 1-6.

Craniofacial and Palate

Burt, İ. A. (2013).
Craniofacial Dysmorphology and Hypodontia in 22q11. 2 Deletion Syndrome.

Filip, C., Matzen, M., Aukner, R., Moe, M., Høgevold, H. E., Åbyholm, F., … & Tønseth, K. (2013).
Superiorly Based Pharyngeal Flap for Treatment of Velopharyngeal Insufficiency in Patients With 22q11. 2 Deletion Syndrome.Journal of Craniofacial Surgery, 24(2), 501-504.

Pasick, C., McDonald-McGinn, D. M., Simbolon, C., Low, D., Zackai, E., & Jackson, O. (2013).
Asymmetric Crying Facies in the 22q11. 2 Deletion Syndrome Implications for Future Screening. Clinical pediatrics, 52(12), 1144-1148.

Rojnueangnit, K., & Robin, N. H. (2013).
Craniosynostosis and radial ray defect: A rare presentation of 22q11. 2 deletion syndrome. American Journal of Medical Genetics Part A, 161(8), 2024-2026.

Sainsbury, D. C., Filson, S., Butterworth, S., Tahir, A., & Hodgkinson, P. D. (2013).
Velopharyngoplasty in patients with 22q11. 2 microdeletion syndrome: outcomes following the Newcastle protocol. European Journal of Plastic Surgery, 1-12.

Miscellaneous

Aurias, A. (1996).[Neurocristopathies and chromosome 22 deletions]. C R Seances Soc Biol Fil., 190(5-6), 569-75.

Binenbaum, G., McDonald-McGinn, D. M., Zackai, E. H., Walker, B. M., Coleman, K., Mach, A. M.,…Forbes, B.J. (2008) Sclerocornea associated with the chromosome 22q11.2 deletion syndrome. Am J Med Genetics, 146(7), 904-9.

Briegel, W., Schneider, M., & Schwab, K. O. (2009). 22q11.2 deletion: Handicap-related problems and coping strategies of primary caregivers. Z Kinder Jugendpsychiatr Psychother, 37(6), 535-540.

Bristow, J.D., & Bernstein H.S. (1998).Counseling Families with Chromosome 22q11 Deletions: The catch in CATCH -22. J Am Coll Cardiology, 32(2), 499-501.

Burn, J. (1999). Closing Time for Catch 22. J Med Genetics, 36(10), 737-738.

Cardona, L., & Grigorenko, E. L. (2013).Velocardiofacial Syndrome. InEncyclopedia of Autism Spectrum Disorders (pp. 3214-3219). Springer New York.

Chen, C. P., Huang, J. P., Chen, Y. Y., Chern, S. R., Wu, P. S., Su, J. W., … & Wang, W. (2013).Chromosome 22q11. 2 deletion syndrome: prenatal diagnosis, array comparative genomic hybridization characterization using uncultured amniocytes and literature review. Gene.

Cirillo, E., Giardino, G., Gallo, V., Puliafito, P., Azzari, C., Bacchetta, R., … & Pignata, C. (2014). Intergenerational and intrafamilial phenotypic variability in 22q11. 2 Deletion syndrome subjects. BMC medical genetics, 15(1), 1.

Corsten-Janssen, N., Saitta, S. C., Hoefsloot, L. H., McDonald-McGinn, D. M., Driscoll, D. A., Derks, R., … & van Ravenswaaij-Arts, C. M. A. (2013). More Clinical Overlap between 22q11. 2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated. Molecular Syndromology.

Dalben, G., Richieri-Costa, A., & Taveira, L. A. (2009). Craniofacial Morphology in Patients with Velocardiofacial Syndrome. Cleft Palate Craniofac Journal, 19(1).

D’Antonio, L.L., Scherer, N.J., Miller, L.L., Kalbfleisch, J.H., & Bartley, J.A. (2001). Analysis of Speech Characteristics in Children with Velocardiofacial Syndrome (VCFS) and Children with PhenotypicOverlap without VCFS. Cleft Palate-Craniofacial Journal, 39(5), 455-467.

Delio, M., Guo, T., McDonald-McGinn, D. M., Zackai, E., Herman, S., Kaminetzky, M., … & Vicari, S. (2013). Enhanced Maternal Origin of the 22q11. 2 Deletion in Velocardiofacial and DiGeorge Syndromes. The American Journal of Human Genetics. Psychiatry / Psychology / Development

Demczuk, S., & Aurias, A. (1995). DiGeorge syndrome and related syndromes associated with 22q11.2 deletions. Ann Genetics, 38(2), 59-76.

Demczuk, S., Levy, A., Aubry, M., Croquette, M.F., Philip, N., Prieur, M.,…Thomas, G. (1995). Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review ofthe literature. Hum Genetics, 96(1), 9-13.

Devriendt, K., Fryns, J.P., Mortier, G., van Thienen, M.N., & Keymolen, K. (1998). The Annual Incidence of DiGeorge/velocardiofacial syndrome. J Med Genetics, 35(9), 789-790.

Digilio, M.C., Giannotti, A., Marino, B., Guadagni, A.M., Orzalesi, M., & Dallapiccola, B. (1997). Radial Aplasia and chromosome 22q11 deletion. J Med Genetics, 34(11), 942-944.

Digilio, M. C., McDonald-McGinn, D. M., Heike, C., Catania, C., Dallapiccola, B., Marino, B., & Zackai, E.H. (2009). Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2. Am J Med Genet A, 149A(12), 2860-4.

Enns, G.M., Cox, V.A., Golabi, M., Immken, L., Fisher, J., & Curry, C. (1999). Gastrointestinal Tract Anomalies in Velocardiofacial Syndrome. Am J Med Genetics, 84(4), 382-383.

Fernhoff, P.M. (2000). The 22q11.2 deletion syndrome: More answers but more questions. J Pediatr., 137(2),145-147.

Fryburg, J.S., Lin, K.Y., & Golden, W.L. (1996). Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome. Am J Med Genetics, 62(3), 274-5.

Fukai, R., Ochi, N., Murakami, A., Nakashima, M., Tsurusaki, Y., Saitsu, H., … & Miyake, N. (2013). Co‐occurrence of 22q11 deletion syndrome and hdr syndrome. American Journal of Medical Genetics Part A, 161(10), 2576-2581.

Goodship, J., Cross, I., LiLing, J. & Wren, C. (1998). A Population Study of Chromosome 22q11 Deletions in Infancy. Arch Dis Children, 79(4), 348-51.

Gregson, R. A. (2013). Decision Making with Complex Nonlinear Systems: Inference and Identification in the Context of DS22q11. 2. Nonlinear dynamics, psychology, and life sciences, 17(2), 173-181.

Habel, A., Herriot, R., Kumararatne, D., Allgrove, J., Baker, K., Baxendale, H., … & Tsai-Goodman, B. (2014). Towards a safety net for management of 22q11. 2 deletion syndrome: guidelines for our times. European journal of pediatrics, 1-9.

Hopkin, R.J., Schorry, E.K., Bofinger, M., & Saal, H.M. (2000). Increased need for medical interventions in infants with velocardiofacial (deletion 22q11) syndrome. J Pediatr., 137(2), 247-249.

Iselius, L., Lindsten, J., Aurias, A., Fraccaro, M., Bastard, C., Bottelli, A.M.,…Delendi, N. (1983). The 11q;22q translocation: a collaborative study of 20 new cases and analysis of 110 families. Human Genetics, 64(4), 343-355.

Klingberg, G., Oskarsdóttir, S., Johannesson, E.L., & Norén, J.G. (2002). Oral Manifestations in 22q11 deletion syndrome. International Journal of Pediatric Dentistry, 12(1), 14-23.

Kurahashi, H., Tsuda, E., Kohama, R., Nakayama, T., Masuno, M., Imaizumi, K.,…Nishisho, I. (1997). Another Critical Region for Deletion of 22q11: A Study of 100 Patients. Am J Med Genetics, 72(2), 180-185.

Lawrence, S., McDonald-McGinn, D. M.,Zackai, E. H., & Sullivan, K. E. (2003). Thrombocytopenia in patients with Chromosome 22q11.2 Deletion syndrome. The Journal of Pediatrics, 143(2), 277-8.

Leana-Cox, J., Pangkanon, S., Eanet, K.R., Curtin, M.S., & Wulfsberg, E.A. (1996). Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: report of five families with a review of the literature. Am J Med Genetics, 65(4), 309-16.

Lee, S. K., Lee, M. J., Lee, H. J., Kim, B. K., Sohn, Y. B., & Chung, Y. S. (2013). A Case of CATCH22 Syndrome Diagnosed in Postmenopausal Woman. Journal of Bone Metabolism, 20(1), 57-60.

Levy, A., Zucman, J., Delattre, O., Mattei, M.G., Rio, M.C., & Basset, P. (1992). Assignment of the human stromelysin 3 (STMY3) gene to the q11.2 region of chromosome 22. Genomics, 13(3), 881-3.

Lewandowicz-Uszynska, A., Zwonarz, K., & Chmielarska, J. (2013). The 22q11 microdeletion syndrome in children. Central European Journal of Immunology,38(2), 271-275.

Liling, J., Cross, I., & Burn, J.(1999). Frequency and predictive value of 22q11 deletion. J Med Genetics, 36(10), 794-795.

Lindsay, E.A., Goldberg, R., Jurecic, V., Morrow, B., Carlson, C., Kucherlapati, R.S.,… Baldini A. (1995). Velo-cardio-facialsyndrome: frequency and extent of 22q11 deletions. Am J Med Genetics, 57(3), 514-22.

Maggadottir, S. M., & Sullivan, K. E. (2013). The Diverse Clinical Features of Chromosome 22q11. 2 Deletion Syndrome (DiGeorge Syndrome). The Journal of Allergy and Clinical Immunology: In Practice, 1(6), 589-594.

Ming, J.E., McDonald-McGinn, D.M., Megerian, T.E., Driscoll, D.A., Elias, E.R., Russell, B.M.,…Zackai, E.H. (1997). Skeletal anomalies and Deformities in Patients with Deletions of 22q11. Am J Med Genetics, 72(2), 210-215.

Molck, M. C., Vieira, T. P., Sgardioli, I. C., Simioni, M., dos Santos, A. P., Souza, J., … & Gil-da-Silva-Lopes, V. L. (2013). Atypical copy number abnormalities in 22q11. 2 region: Report of three cases. European journal of medical genetics, 56(9), 515-520.

Monteiro, F. P., Vieira, T. P., Sgardioli, I. C., Molck, M. C., Damiano, A. P., Souza, J., … & Gil-da-Silva-Lopes, V. L. (2013). Defining new guidelines for screening the 22q11. 2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature. European journal of pediatrics, 1-19.

Pierpont, J.W., Erickson, R.P., Thompson, F.H., & Yang, J.M. (1996). Size of 22q deletions in four previously reported patients with conotruncal anomaly face syndrome. Clin Genetics, 50(6), 545-7.

Prasad, C., Quackenbush, E.J., Whiteman, D., & Korf, B. (1997). Limb Anomalies in DiGeorge and CHARGE Syndromes. Am J Med Genetics, 68(2),179-181.

Ricchetti, E., States, L., Hosalkar, H., Tamai, J., Maisenbacher, M., McDonald-McGinn, D.,…Drummond, D.S. (2004). Radiographic Study of the Upper Cervical Spine in the 22q11.2 Deletion Syndrome. The Journal of Bone and Joint Surgery, 86-A(8), 1751-60.

Scambler, P.J. (2000). The 22q11 deletion syndromes. Human Molecular Genetics, 9(16), 2421-2426.

Schulze, B. R., et al. (2001). Misclassification risk of patients with bilateral cleft lip and palate and manifestations of medial facial dysplasia: A new variant of del(22q11.2) syndrome? Am J Med Genet, 99(4), 280-5.

Smith, A., & Robson, L. (1999). Low Frequency of Inherited Deletions of 22q11. Am J Med Genet, 85(5), 513-514.

Tan, G. M., Arnone, D., McIntosh, A. M., & Ebmeier, K. P. (2009). Meta-analysis of magnetic resonance imaging studies in chromosome 22q11.2 deletion syndrome (velocardiofacial syndrome). Schizophr Res, 115(2-3), 173-181.

Tellier, A.L., Cormier-Daire, V., Abadie, V., Amiel, J., Sigaudy, S., Bonnet, D., Lyonnet, S. (1998). CHARGE Syndrome: Report of 47 Cases and Review. Am J Med Genet, 76(5), 402-409.

Thompson, P.W., & Davies, S.J. (1998). Frequency of Inherited deletions of 22q11. J Med Genet, 35(9), 789.

Verloes, A., Curry, C., Jamar, M., Herens, C., O’Lague, P., Marks, J., Sarda, P., & Blanchet, P. (1998). Juvenile Rheumatoid Arthritis and del(22q11) Syndrome: A Non-random Association. J Med Genet, 35(11), 943-947.

Vieira, T. P., Sgardioli, I. C., & Gil-da-Silva-Lopes, V. L. (2013). Genetics and public health: the experience of a reference center for diagnosis of 22q11. 2 deletion in Brazil and suggestions for implementing genetic testing. Journal of community genetics, 4(1), 99-106.

Wang, K., Yang, Y., Shen, F., Tao, J., Xu, H., Portnof, J., Salyer, K.E. (2009). Utilization of Three-Dimensional Computed Tomography for Craniofacial Phenotypic Analysis in Children With Velocardiofacial Syndrome. J Craniofac Surg, 20(6), 2013-9.

Worthington S, Colley A, Fagan K.Dai K, Lipson AH. (1997). Anal Anomalies: An Uncommon feature of velocardiofacial (Shprintzen) Syndrome? J Med Genet, 34(1), 79-82.

Psychiatry, Psychology and Development

Allen, T. M., Hersh, J., Schoch, K., Curtiss, K., Hooper, S. R., & Shashi, V. (2013). Association of the family environment with behavioural and cognitive outcomes in children with chromosome 22q11. 2 deletion syndrome. Journal of Intellectual Disability Research.

Angkustsiri, K., Goodlin-Jones, B., Deprey, L., Brahmbhatt, K., Harris, S., & Simon, T. J. (2013). Social Impairments in Chromosome 22q11. 2 Deletion Syndrome (22q11. 2DS): Autism Spectrum Disorder or a Different Endophenotype?. Journal of autism and developmental disorders, 1-8.

Armando, M., Pontillo, M., De Crescenzo, F., Correale, C., De Simoni, E., Papaleo, F., … & Vicari, S. (2013). AN OVERVIEW OF CORRELATIONS BETWEEN SCHIZOPHRENIA AND 22Q11. 2 DELETION SYNDROME.

Arnold, P.D., Siegel-Bartelt, J., Cytrynbaum, C., Teshima, I., & Schachar, R. ( 2001). Velo-cardio-Facial Syndrome: Implications of Microdeletion 22q11 for Schizophrenia and Mood Disorders. Am J Med Genetics, 105(4), 354-362.

Bassett, A. S., & Chow, E. W. (1999). 22q11 deletion Syndrome: A genetic substype of schizophrenia. Biol. Psychiatry, 46(7), 882-891.

Bassett, A., Hodgkinson, K., Chow., E., Correia, S., Scutt, L., & Weksberg, R. (1998). 22q11 Deletion Syndrome in Adults with Schizophrenia. Am J Med Genetics, 81(4), 328-337.

Bearden, C., Jawad, A., Lynch, D., Sokol, S., Kanes, S., McDonald-McGinn, D.,…Simon, T.J. (2004).Effects of a Functional COMT Polymorphism on Prefrontal Cognitive Function in Patients with 22q11.2 Deletion Syndrome. Am J Psychiatry, 161(9), 1700-2.

Chow, E.W., Zipursky, R.B., Mikulis, D.J., & Bassett, A.S. (2002). Structural brain abnormalities in patients with schizophrenia and 22q11 deletion syndrome. Biol Psychiatry, 51(3), 208-15.

Chow, L.Y., Garce-Barcelo, M., Wing, Y. K., & Waye, M. Y. (1999). Schizophrenia and hypocalcaemia: variable phenotype of deletion at chromosome 22q11. Australian and New Zealand Journal of Psychiatry, 33(5), 760-762.

Chow, L. Y., Waye, M. M. Y., Garcia-Barcelo, M., Chui, H. F. K., Fung, K. P., & Lee, C.Y. (1998). Velo-cardio-facial syndrome, schizophrenia and deletion at chromosome 22q11. Journal of Intellectual Disability Research, 42(2), 184-188.

Debbané, M., Van der Linden, M., Glaser, B., & Eliez, S. (2009). Monitoring of self-generated speech in adolescents with 22q11.2 deletion syndrome. Br J Clin Psychology. [Epub ahead of print]

Dewulf, D., Noens, I., & Swillen, A. (2013). Adaptieve vaardigheden, cognitief functioneren en gedragsproblemen bij adolescenten met het 22q11. 2-deletiesyndroom [Adaptive skills, cognitive functioning and behavioural problems in adolescents with 22q11. 2 deletion syndrome]. Tijdschrift voor Psychiatrie, 55(5), 369-74.

Eliez, S., Blasey, C.M., Schmitt, E.J., White, C.D., Hu, D., & Reiss, A.L. (2001). Velocardiofacial syndrome: are structural changes in the temporal and mesial temporal regions related to schizophrenia? Am J Psychiatry, 158(3), 447-53.

Eliez, S., Palacio-Espasa, F., Spira, A., Lacroix, M., Pont, C., Luthi, F.,…Cramer, B. (2000). Young children with Velo-Cardio-Facial syndrome (CATCH-22). Psychological and language phenotypes. Eur Child Adolesc Psychiatry, 9(2),109-14.

Feinstein, C. (2009). Stranded, part II: Velocardiofacial syndrome,behavioral neurogenetics, and the study of developmental psychopathology. J Am Acad Child Adolesc Psychiatry, 48(11), 1049-1050.

Fung, W. L. A., Butcher, N. J., Costain G., Andrade, D. M., Boot, E., Chow, E. W. C., Chung, B., Cytrynbaum, C., Faghfoury, H., Fishman, L., García-Miñaúr, S., George, S., Lang A. E., Repetto, G., Shugar, A., Silversides, C., Swillen, A., Amelsvoort T. V., McDonald-McGinn, D., Bassett, A. S. (2015) Practical guidelines for managing adults with 22q11.2 deletion syndrome. Genet Med, 17(8), 599-609.

Gerdes, M., Solot, C., Wang, P.P., Moss, E., LaRossa, D., Randall, P.,…Zackai, E.H. (1999). Cognitive and Behavior Profile of Preschool Children with Chromosome 22q11.2 Deletion. Am J Med Genetics, 85(2),127-133.

Gerdes, M., Solot, C., Wang, P.P., McDonald-McGinn, D.M., Zackai, E.H. (2001). Taking advantage of early diagnosis: Preschool children with the 22q11.2 deletion. Genetics in Medicine, 3, 40-44.

Glaser, B. (2002). Language Skills in children with velocardiofacial syndrome (deletion 22q11.2). Journal of Pediatrics, 140(6), 753-758.

Gothelf, D., Frisch, A., Munitz, H., Rockah, R., Laufer, N., Mozes, T.,…Frydman M. (1999). Clinical Characteristics of Schizophrenia Associated with Velocardiofacial Syndrome. Schizophr Res., 35(2),105-12.

Gothelf, D., Law, A. J., Frisch, A., Chen, J., Zarchi, O., Michaelovsky, E., … & Weinberger, D. R. (2013). Biological Effects of< i> COMT Haplotypes and Psychosis Risk in 22q11. 2 Deletion Syndrome. Biological psychiatry.

Gothelf, D., Presburger, G., Levy, D., Nahmani, A., Burg, M., Berant, M.,…Weizman, A. (2004). Genetic, Developmental, and Physical Factors Associated with Attention Deficit Hyperactivity Disorder in Patients with Velocardiofacial Syndrome. J Am Med Genet B Neuropsychiatr Genetics, 126B(1), 116-121.

Gothelf, D., Schneider, M., Green, T., Debbané, M., Frisch, A., Glaser, B., … & Eliez, S. (2013). Risk Factors and the Evolution of Psychosis in 22q11. 2 Deletion Syndrome: A Longitudinal 2-Site Study. Journal of the American Academy of Child & Adolescent Psychiatry, 52(11), 1192-1203.

Gothelf, D., Frisch, A., Munitz, H., Rockah, R., Aviram, A., Mozes, T.,…Frydman, M. (1997). Velocardiofacial Manifestations and Microdeletions in Schizophrenic Patients. Am J Med Genetics, 72(4), 455-461.

Green , T., Gothelf, D., Glaser, B., Debbane, M., Frisch, A., Kotler, M.,…Eliez, S. (2009). Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11.2 deletion) syndrome. J Am Acad Child Adolesc Psychiatry, 48(11), 1060-1068.

Hamid, R. (2013). Relationship of Speech and Behavior Problems in DiGeorge Syndrome. AAP Grand Rounds, 29(5), 57-57.

Harrell, W., Eack, S., Hooper, S. R., Keshavan, M. S., Bonner, M. S., Schoch, K., & Shashi, V. (2013). Feasibility and preliminary efficacy data from a computerized cognitive intervention in children with chromosome 22q11. 2 deletion syndrome. Research in developmental disabilities, 34(9), 2606-2613.

Henry, J.C., van Amelsvoort, T., Morris, R.G., Owen, M.J., Murphy, D.G., Murphy, K.C. (2002). An investigation of the neuropsychological profile in adults with velo-cardio-facial syndrome (VCFS). Neuropsychologia, 40(5), 471-478.

Jones, R. G., Morley-Canellas J. (2001). Chromosome 22q11 deletions and severe learning disability. British Journal of Psychiatry, 179(5), 466-a

Jorgensen, T.H., Børglum, A.D., Mors, O., Wang, A.G., Pinaud, M., Flint, T.J.,…Ewald H. (2002). Search for Common Haplotypes on Chromosome 22q in Patients with Schizophrenia or Bipolar Disprder From the Faroe Islands. Am J Med Genetics, 114(2), 245-252.

Jolin, E. M., Weller, R. A., Jessani, N. R., Zachai, E. H., McDonald-McGinn, D. M., & Weller, E. B. (2009). Affective disorders and other psychiatric diagnoses in children and adolescents with 22q11.2 deletion syndrome. Journal of Affected Disorders, 119(1-3), 177-80.

Kelsoe, J.R., Spence, M.A., Loetscher, E., Foguet, M., Sadovnick, A.D., Remick, R.A.,…Luebbert, H. (2001). A genome survey indicates a possible susceptibility locus for bipolar disorder on chromosome 22. Proc. Natl. Acad. Sci., 98(2), 585-590.

Klaassen, P., Duijff, S., Swanenburg de Veye, H., Vorstman, J., Beemer, F., & Sinnema, G. (2013). Behavior in preschool children with the 22q11. 2 deletion syndrome. American Journal of Medical Genetics Part A, 161(1), 94-101.

Lachman, H.M., Kelsoe, J.R., Remick, R.A., Sadovnick, A.D., Rapaport, M.H., Lin, M.,… Papolos, D.F. (1997). Linkage Studies Suggest a Possible Locus for Bipolar Disorder Near the Velo-Cardio-Facial Syndrome Regiona onChromosome 22. Am J Med Genetics, 74(2),121-128.

Lindsay, E.A., Morris, M.A., Gos, A., Nestadt, G., Wolyniec, P.S., Lasseter, V.K.,…Pulver, A.E. (1995). Schizophrenia and chromosomal deletions within 22q11.2. Am J Hum Genetics, 56(6), 1502-3.

Liu, H., Abecasis, G.R., Heath, S.C., Knowles, A., Demars, S., Chen, Y.J.,…Karayiorgou, M. (2002). Genetic variation in the 22q11 locus and susceptibility to schizophrenia. PNAS, 99(26), 16859-16864.

McCandless, S.E., Scott, J.A., & Robin, N.H. (1998). Deletion 22q11 : A Newly Recognized Cause of Behavioral and Psychiatric Disorders. Arch Pediatr Adolesc Med., 152(5), 481-4.

Morris, E., Inglis, A., Friedman, J., & Austin, J. (2013). Discussing the psychiatric manifestations of 22q11. 2 deletion syndrome: an exploration of clinical practice among medical geneticists. Genetics in Medicine.

Moss, E.M., Batshaw, M.L., Solot, C.B., Gerdes, M., McDonald-McGinn, D.M., Driscoll, D.A., Emanuel, B.S., Zackai, E.H., & Wang, P.P. (1999). Psychoeducational Profile of the 22q11.2 Microdeletion: A Complex Pattern. Journal of Pediatrics, 134(2),142-3.

Moss, E., Wang P.P, McDonald-McGinn, D.M., Gerdes, M., DaCosta, A.M., Christensen, K.M., Driscoll, D.A., Emanuel, B.S., Batshaw, M.L., Zackai, E.H. (1995). Characteristic cognitive profile in patients with a 22q11.2 deletion: verbal IQ exceeds nonverbal IQ. American Journal of Human Genetics, 57, 91.

Murphy, K. C., Jones, L.A., & Owen, M.J. (1999). High Rates of Schizophrenia in Adults with Velo-cardio-facial Syndrome. Arch Gen Psychiatry, 56(10), 940-945.

Murphy, K. C. (2002). Schizophrenia and velo-cardio-facial syndrome. Lancet, 359(9304), 426-30.

Murphy, K. C., & Owen, M. J. (1998). The Behavioural Phenotype in Velo-cardio-facial Syndrome. Schizophrenia Research, 29(1), 132-132(1).

Murphy, K. C. (2004). The behavioural phenotype in velo-cardio-facial syndrome. Journal of Intellectual Disability Research, 48(6), 524-530.

Murphy, K. C., & Owen, M. J. (2001). Velo-cardio-facial syndrome: a model for understanding the genetics and pathogenesis of schizophrenia. British Jounral of Psychiatry, 179, 397-402.

Niarchou, M., Zammit, S., van Goozen, S. H., Thapar, A., Tierling, H. M., Owen, M. J., & van den Bree, M. B. (2014). Psychopathology and cognition in children with 22q11. 2 deletion syndrome. The British Journal of Psychiatry,204(1), 46-54.

Niklasson, L., Rasmussen, P., Oskarsdóttir, S., Gillberg, C. (2002). Chromosome 22q11 deletion syndrome (CATCH 22): neuropsychiatric and neurophsychological aspects. Developmental Medicine and Child Neurology, 44(1), 44-50.

Ohi, K., Hashimoto, R., Yamamori, H., Yasuda, Y., Fujimoto, M., Nakatani, N., … & Takeda, M. (2013). How to diagnose the 22q11. 2 deletion syndrome in patients with schizophrenia: a case report. Annals of general psychiatry, 12(1), 29.

Paylor, R., McIlwain, K.L., McAninch, R., Nellis, A., Yuva-Paylor, L.A., Baldini, A., & Lindsay, E.A. (2001). Mice deleted for the DiGeorge/velocardiofacial syndrome region show abnormal sensorimotor gating and learning and memory impairments. Hum Mol Genetics, 10(23), 2645-2650.

Perlstein, M. D., Chohan, M. R., Coman, I. L., Antshel, K. M., Fremont, W. P., Gnirke, M. H., … & Kates, W. R. (2014). White matter abnormalities in 22q11. 2 deletion syndrome: Preliminary associations with the Nogo-66 receptor gene and symptoms of psychosis. Schizophrenia research, 152(1), 117-123.

Prinzie, P., Swillen, A., Vogels, A., Kockuyt, V., Curfs, L., Haselager, G.,…Fryns, J.P. (2002). Personality Profiles of Youngsters with Velo-cardio-facial syndrome. Genetic Counseling, 13(3), 265-280.

Reilly, C., & Stedman, L. (2013). Supporting children with genetic syndromes in the classroom: the example of 22q deletion syndrome. Support for Learning,28(3), 115-121.

Ross, H., Guo, Y., Coleman, K., Ousley, O., & Miller, A. (2013). Association of IL-12p70 and IL-6: IL-10 ratio with autism-related behaviors in 22q11. 2 deletion syndrome: a preliminary report. Brain, behavior, and immunity.

Scandurra, V., Scordo, M. R., Canitano, R., & de Bruin, E. I. (2013). 22q11 Deletion Syndrome and Multiple Complex Developmental Disorder: A Case Report. Journal of clinical medicine research, 5(2), 135.

Shashi, V., Wray, E., Schoch, K., Curtiss, K., & Hooper, S. R. (2013). Discrepancies in Parent and Teacher Ratings of Social-Behavioral Functioning of Children With Chromosome 22q11. 2 Deletion Syndrome: Implications for Assessment. American journal on intellectual and developmental disabilities,118(5), 339-352.

Scherer, N.J., D’Antonio, L.L., & Kalbfleish, J.H. (1999). Early Speech and Language Development in Children with Velocardiofacial Syndrome. Am J Med Genet (Neuropsychiatric Genetics), 88(6), 714-723.

Shastry, B. S. (1999). Recent Developments in the genetics of schizophrenia. Neurogenetics, 2(3), 149-154.

Shprintzen, R. J. (2000). Velo-Cardio-Facial Syndrome: A Distinctive Behavioral Phenotype. Mental Retardation and Developmental Disabilities Research reviews, 6(2), 142-147.

Simon, T. J., Takarae, Y., Deboer, T., McDonald-McGinn, D. M., Zackai, E. H., & Ross, J. L. (2008). Overlapping numerical cognition impairments in children with chromosome 22q11.2 deletion or Turner syndromes. Neuropsychologia, 46(1), 82-94.

Simon, T. J., Bearden, C. E., Moss, E. M., McDonald-McGinn, D., Zackai, E., & Wang, P. P. (2002). Cognitive Development in VCFS. Progress in Pediatric Cardiology, 15(2), 109-117.

Solot, C.B., Knightly, C., Handler, S.D., Gerdes, M., McDonald-McGinn, D.M., Moss, E., Wang, P., Cohen, M., Randall, P., Larossa, D., & Driscoll, D.A. (2000). Communication disorders in the 22q11.2 microdeletion syndrome. J Commun Disord., 33(3), 187-203.

Solot C.B., Gerdes, M., Kirschner, R.E., McDonald-McGinn, D.M., Moss, E., Woodin, M., Aleman, D., Zackai, E.H., Wang, P.P. (2001). Communication issues in 22q11.2 deletion syndrome: Children at risk. Genetics in Medicine, 3, 67-71.

Sugama, S., Namihira, T., Matsuoka, R., Taira, N., Eto, Y., & Maekawa, K. (1999). Psychiatric Inpatients and Chromosome Deletions within 22q11.2. J Neurol Neurosurg Psychiatry, 67(6), 803-806.

Swillen, A., Devriendt, K., Ghesquière, P., & Fryns, J.P. (2001). Children with a 22q11 deletion versus children with a speech-language impairment and learning disability: behaviour during primary school age. Genet Couns., 12(4), 309-17.

Swillen, A., Vandeputte, L., Cracco, J., Maes, B., Ghesquière, P., Devriendt, K., & Fryns, J.P. (1999). Neuropsychological, learning and psychosocial profile of primary school aged children with the velo-cardio-facial syndrome (22q11 deletion): evidence for a nonverbal learning disability? Neuropsychol Dev Cogn Sect C Child Neuropsychology, 5(4), 230-41.

Swillen, A., Devriendt, K., Legius, E., Eyskens, B., Dumoulin, M., Gewillig, M., & Fryns, J.P. (1997). Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS. J Med Genetics, 34(6), 453-458.

Swillen, A., Vogels, A., Devriendt, K., & Fryns, J. P. (2000). Chromosome 22q11 Deletion Syndrome: Update and Review of the Clinical Features, Cognitive-Behavioral Spectrum,and Psychiatric Complications. Am J Med Genetics, 97(2), 128-135.

Tang, S. X., Yi, J. J., Calkins, M. E., Whinna, D. A., Kohler, C. G., Souders, M. C., … & Gur, R. E. (2013). Psychiatric disorders in 22q11. 2 deletion syndrome are prevalent but undertreated. Psychol. Med, 9, 1-11.

Tarsitano, M., Ceglia, C., Novelli, A., Capalbo, A., Lombardo, B., Pastore, L., … & Cavaliere, M. L. (2013). Microduplications in 22q11. 2 and 8q22. 1 associated with mild mental retardation and generalized overgrowth. Gene.

Van Amelsvoort, T., Henry, J., Morris, R., Owen, M., Liszen, D., Murphy, K., & Murphy, D. (2004). Cognitive deficits associated with schizophrenia in velo-cardio-facial syndrome. Schizophrenia Research, 70(2-3), 223-232.

Van Den Heuvel, E., Swillen, A., Manders, E., & Zink, I. (2013). Relationship between social behavior, cognition and communication in children with 22q11. 2 deletion syndrome. status: published.

Vataja, R., & Elomaa, E. (1998).Midline Brain Anomalies and Schizophrenia in People with CATCH 22 Syndrome. Br J Psychiatry, 172, 518-20.Vogels, A., Verhoeven, W.M., Tuinier, S., DeVriendt, K., Swillen, A., Curfs, L.M., & Frijns, J.P. (2002). The psychopathological phenotype of velo-cardio-facial-syndrome. Annales de Genetique, 45(2), 89-95.

Vogels, A., Verhoeven, W.M., Tuinier, S., DeVriendt, K., Swillen, A., Curfs, L.M., & Frijns, J.P. (2002). The psychopathological phenotype of velo-cardio-facial-syndrome. Annales de Genetique, 45(2), 89-95.

Walter, E., Mazaika, P. K., & Reiss, A. L. (2009). Insights into brain development from neurogenetic syndromes: evidence from fragile X syndrome, Williams syndrome, Turner syndrome and velocardiofacial syndrome. Neuroscience, 24(164), 257-271.

Wang, P. P. Woodin, M. F., Kreps-Falk, R., & Moss, E. M. (2000). Research on behavioral phenotypes: velocardiofacial syndrome (deletion 22q11.2). Dev Med Child Neurology, 42(6), 422-7.

Woodin, M., Wang P.P., Aleman, D., McDonald-McGinn, D., Zackai, E., Moss, E. (2001). Neuropsychological profile of children and adolescents with the 22q11.2 microdeletion. Genetics in Medicine, 3, 34-39.

Yuen, T., Chow, E. W., Silversides, C. K., & Bassett, A. S. (2013). Premorbid adjustment and schizophrenia in individuals with 22q11. 2 deletion syndrome.Schizophrenia research, 151(1), 221-225.

Methylphenidate Treatment for Attention-Deficit/Hyperactivity Disorder in Children and Adolescents With Velocardiofacial Syndrome: An Open-Label Study

The Effect of Methylphenidate on Prefrontal Cognitive Functioning, Inattention, and Hyperactivity in Velocardiofacial Syndrome

Atypical Antipsychotics and Relapsing Psychoses in 22q11.2 Deletion Syndrome: A Long-term Evaluation of 28 Patients

Otolaryngology

Boorman J.G, Varma, S., & Ogilvie, C.M. (2001). Velopharyngeal incompetence and chromosome 22q11 deletion. The Lancet,357(9258), 774.

Digilio, M.C., Marino, B., Bagolan, P., Giannotti, A., & Dallapiccola, B. (1999). Microdeletion 22q11 and Oesophageal Atresia. J Med Genetics, 36(2),137-139.

Digilio, M.C., Pacifico, C., Tieri, L., Marino, B., Giannotti, A., & Dallapiccola, B. (1999). Audiological findings in patients with microdeletion 22q11. Br J Audiol., 33(5), 329-33.

Eicher, P.S., McDonald-McGinn, D.M., Fox, C.A., Driscoll, D.A., Emanuel, B.S., & Zackai, E.H. (2000). Dysphagia in children with a 22q11.2 deletion: Unusual pattern found on modified barium swallow. J Pediatr., 137(2),158-164.

Fokstuen, S., Bottani, A., Medeiros, P.F., Antonarakis, S.E., Stoll, C., & Schinzel, A. (1997). Laryngeal Atresia Type III (Glottic Web) With 22q11.2 Microdeletion: Report of Three Patients. Am J Med Genetics, 70(2), 130-133.

Forbes, B. J., Binebaum G., Edmond J.C., DeLarato N., McDonald-McGinn D.M., & Zackai E.H. (2007) Ocular findings in the chromosome 22q11.2 deletion syndrome. J AAPOS, 11(2), 179-182.

Gripp, K.W., McDonald-McGinn, D.M., Driscoll, D., Reed, L.A., Emanuel, B.S., & Zackai, E.H. (1997). Nasal Dimple as Part of the 22q11.2 Deletion Syndrome. Am J Med Genetics, 69(3), 290-292.

Huang, R.Y., & Shapiro, N.L. (2000). Structural airway anomalies in patients with DiGeorge syndrome: a current review. Am J Otolaryngology, 21(5), 326-30.

Kirkpatrick, S.J., & Pauli, R.M. (1998). Frontonasal Malformation and Deletion of 22q11. Am J Med Genetics, 75(3), 443-444.

Marble, M., Morava, E., Tsien, F., Amedee, R., & Pierce, M. (1998). Subglottic Web in a Mother and Son with 22q11.2 Deletion. Am J Med Genetics, 75(5), 537.

Reyes, M.R.T., Leblanc, E.M., & Bassila, M.K. (1999). Hearing Loss and Otitis Media in Velo-Cardio-Facial Syndrome. International Journal of Pediatric Otorhinolaryngology, 47(3), 227-233.

Stoler, J.M., Ladoulis, M., & Holmes, L.B. (1998). Anterior Laryngeal Webs and 22q11 Deletions. American Journal of Medical Genetics, 79(2),152.

Vantrappen, G., Rommel, N., Cremers, C.W., Devriendt, K., & Frijns, J.P. (1998). The Velo-cardio-facial Syndrome; The Otohinolaryngeal Manifestations and Implications. International Journal of Pediatric Otorhinolaryngology, 45(2), 133-41.

Versteegh, F.G., von Lindern, J.S., Kemper, J., Eichhorn, E., Simonsz, H.J., & Wouters, C.H. (2000). Duane retraction syndrome, a new feature in 22q11 deletion syndrome? Clin Dysmorphology, 9(2), 135-7.

Ysunza, A., Pamplona, M.C., Ramírez, E., Canún, S., Sierra, M.C., & Silva-Rojas, A. (2003). Videonasopharyngoscopy in patients with 22q11.2 deletion syndrome (Shprintzen syndrome). International Journal of Pediatric Otorhinolaryngology, 67(8), 911-915.

Zori, R.T., Boyar, F.Z., Williams, W.N., Gray, B.A., Bent-Williams, A., Stalker, H.J.,… Williams, C.A. (1998). Prevalence of 22q11 region Deletions in Patients with Velopharengeal Insufficiency. Am J Med Genetics, 77(1), 8-11.

Neurology

Bautista, R. E., & González, W. (2009). Seizures and EEG findings in an adult patient with DiGeorge syndrome: a case report and review of the literature. Seizure, 18(9), 10.

Bearden, C. E., van Erp, T. G., Dutton, R. A., Lee, A. D., Simon, T. J., Cannon, T. D.,…Thompson, P. M. (2009). Alterations in midline cortical thickness and gyrification patterns mapped in children with 22q11.2 deletions. Cereb Cortex, 19(1), 115-26.

Bingham, P.M., Zimmerman, R.A., McDonald-McGinn, D., Driscoll, D., Emanuel, B.S., & Zackai, E. (1997). Enlarged Sylvian Fissures in Infants with Interstitial Deletion of Chromosome 22q11. Am J Med Genetics, 74(5), 538-543.

Chow, E.W., Mikulis, D.J., Zipursky,R.B., Scutt, L.E., Weksburg, R., & Bassett. A.S. (1999). Qualitative MRI Findings in Adults with 22q11 Deletion Syndrome and Schizophrenia. Biol. Psychiatry, 46(10),1436-1442.

Dean, J.C., De Silva, D.C. & Reardon, W. (1998). Craniostenosis and chromosome 22q11 deletion. J Med Genetics, 35(4), 346-247.

Forstner, A. J., Degenhardt, F., Schratt, G., & Nöthen, M. M. (2013).MicroRNAs as the cause of schizophrenia in 22q11. 2 deletion carriers, and possible implications for idiopathic disease: a mini-review. Frontiers in molecular neuroscience, 6.

Hiroi, N., Takahashi, T., Hishimoto, A., Izumi, T., Boku, S., & Hiramoto, T. (2013). Copy number variation at 22q11. 2: from rare variants to common mechanisms of developmental neuropsychiatric disorders. Molecular psychiatry.

Hulsebos, T.J., Bijlsma, E.K., Geurts van Kessel, A.H., Brakenhoff, R.H., & Westerveld, A. (1991). Direct assignment of the human beta B2 and beta B3 crystallin genes to 22q11.2—-q12: markers for neurofibromatosis 2. Cytogenetics and Cell Genetics, 56(3-4), 171-5.

Jhanwar, S.C., Chen, Q., Li, F.P., Brennan, M.F., & Woodruff, J.M. (1994). Cytogenetic analysis of soft tissue sarcomas. Recurrent chromosome abnormalities in malignant peripheral nerve sheath tumors (MPNST). Cancer Genet Cytogenetics, 78(2),138-44.

Jonas, R. K., Montojo, C. A., & Bearden, C. E. (2013).The 22q11. 2 deletion syndrome as a window into complex neuropsychiatric disorders over the lifespan. Biological psychiatry.

Kao, A., Mariani, J., McDonald-McGinn, D. Maisenbacher, M., Brooks-Kayal, A., Zackai, E., & Lynch, D.R. (2004). Increased prevalence of unprovoked seizures in patients with a 22q11.2 deletion. Am J Med Genetics, 129A(1), 29-34.

Kawame H., Kurosawa K., Akatsuka A., Ochiai Y., & Mizuno K. (2000). Polymicrogyria is an uncommon manifestation in 22q11.2 deletion syndrome. Am J Med Genetics, 94(1),77-8.

Kozma, C. (1998). On Cognitive Variability in Velocardiofacial Syndrome: Profound Mental Retardation and Autism. Am J MedGenet (Neuropsychiatric Genetics), 81(3), 269-270.

Lemke, J. R., Beck-Wödl , S., Zankl, A., Riegel, M., Kramer, G., & Dorn, T. (2009). Juvenile myoclonic epilepsy with photosensitivity in a female with Velocardiofacial syndrome (del(22)(q11.2))-Causal relationship or coincidence?. Seizure, 18(9), 660-663.

Lynch, D.R., McDonald-McGinn, D.M., Zackai, E.H., Emanuel, B.S., Driscoll, D.A., Whitaker, L.A., & Fischbeck, K.H. (1995). Cerebellar atrophyin a patient with velocardiofacial syndrome. J Med Genetics,32(7), 561-3.

Machado, A.M., Simon, T.J., Nguyen, V., McDonald-McGinn, D.M., Zackai, E.H., Gee, J.C. (2007). Corpus callosum morphology and ventricular size in chromosome 22q11.2 deletion syndrome. Brain Res., 1131(1), 197-210.

McKeever, P.E., Dennis, T.R., Burgess, A.C., Meltzer, P.S., Marchuk, D.A., & Trent, J.M. (1996). Chromosome breakpoint at 17q11.2 andinsertion of DNA from three different chromosomes in a glioblastoma with exceptional glial fibrillary acidic proteinexpression. Cancer Genet Cytogenetics, 87(1), 41-7.

Meechan, D. W., Tucker, E. S., Maynard, T. M., & Lamantia, A. S. (2009). Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome. Proc Natl Acad Sci., 106(38), 16434-16445.

Niklasson L, & Gillberg C. (2010). The neuropsychology of 22q11 deletion syndrome. A neuropsychiatric study of 100 individuals. Research in Developmental Disabilities: A Multidisciplinary Journal, 31(1), 185-194.

Ogilvie, C.M., Moore, J., Daker, M., Palferman, S., Doeherty, Z., & IMGSAC. (2000). Chromosome 22q11 Deletions are Not Found in Autistic Patients Identified Using Strict Diagnostic Criteria. Am J Med Genet (Neuropsychiatric Genetics), 96(1), 15-17.

Ottet, M. C., Schaer, M., Debbané, M., Cammoun, L., Thiran, J. P., & Eliez, S. (2013). Graph theory reveals dysconnected hubs in 22q11DS and altered nodal efficiency in patients with hallucinations. Frontiers in human neuroscience, 7.

Schaer, M., Debbané, M., Bach Cuadra, M., Ottet, M.C., Glaser, B., Thiran, J.P., & Eliez, S. (2009). Deviant trajectories of cortical maturation in 22q11.2 deletion syndrome (22q11DS): A cross-sectional and longitudinal study. Schizophrenia Research, 115(2-3), 182-190.

Schreiner, M. J., Karlsgodt, K. H., Uddin, L. Q., Chow, C., Congdon, E., Jalbrzikowski, M., & Bearden, C. E. (2013). Default mode network connectivity and reciprocal social behavior in 22q11. 2 deletion syndrome. Social cognitive and affective neuroscience, nst114.

Sinderberry, B., Brown, S., Hammond, P., Stevens, A. F., Schall, U., Murphy, D. G., … & Campbell, L. E. (2013). Subtypes in 22q11. 2 deletion syndrome associated with behaviour and neurofacial morphology. Research in developmental disabilities, 34(1), 116-125.

Squarcione, C., Torti, M. C., Di Fabio, F., & Biondi, M. (2013). 22q11 deletion syndrome: a review of the neuropsychiatric features and their neurobiological basis. Neuropsychiatric disease and treatment, 9, 1873.

Tahir, M. O., Kerr, M., & Jones, R. G. (2004). Two cases of generalized seizures and the Velocardiofacial syndrome – a clinically significant association? Journal of Intellectual Disability Research, 48(7), 695-8.

Thompson, P. M., & Simon, T. J. (2013). White matter microstructural abnormalities in girls with chromosome 22q11. 2 deletion syndrome, Fragile X or Turner syndrome as evidenced by diffusion tensor imaging. NeuroImage, 81, 441-454.

Van Amelsvoort, T., Daly, E., Robertson, D., Suckling, J., Ng, Virginia, Critchley, H.,…Murphy, D.G.M. (2001). Structural brain abnormalities associated with deletion at chromosome 22q11: Quantitative neuroimaging study of adults with velo-cardio-facial syndrome. British Journal of Psychiatry, 178, 412-419.

Winqvist, R., Lundstrom, K., Salminen, M., Laatikainen, M., & Ulmanen, I. (1992). The human catechol-O-methyltransferase (COMT) gene maps to band q11.2 of chromosome 22 and shows a frequent RFLP with BglI. Cytogenetics and Cell Genetics, 59(4), 253-7.

Worthington, S., Turner, A., Elber, J., & Andrews, P.I. (2000). 22q11 deletion and polymicrogyria–cause or coincidence? Clin Dysmorphology, 9(3),193-7.

Yan, W., Jacobsen, L.K., Krasnewich, D.M., Guan, X.Y., Lenane, M.C., Paul, S.P., …Rapoport, J.L. (1998). Chromosome 22q11.2 Interstitial Deletions Among Childhood-Onset Schizophrenics and “Multidimentionally Impaired”. Am J Med Genetics, 81(7), 41-43.

Immunology

Bataeva, R., Bellsham‐Revell, H., Zidere, V., & Allan, L. D. (2013). Reliability of fetal thymus measurement in prediction of 22q11. 2 deletion: a retrospective study using four‐dimensional spatiotemporal image correlation volumes.Ultrasound in Obstetrics & Gynecology, 41(2), 172-176.

Bauer, S.R., Huebner, K., Budarf, M., Finan, J., Erikson, J., Emanuel, B.S.,…Melchers F. (1988). The human Vpre B gene is located on chromosome 22 near a cluster of V lambda gene segments. Immunogenetics, 28(5), 328-33.

Bauer, T.R. Jr., McDermid, H.E., Budarf, M.L., Van Keuren, M.L., & Blomberg, B.B. (1993). Physical location of the human immunoglobulin lambda-like genes, 14.1, 16.1, and 16.2. Immunogenetics, 38(6), 387-99.

Bockman, D.E. (1997). Development of the Thymus. Microscopy Research and Technique, 38(3), 209-215.

Chinn, I. K., Milner, J. D., Scheinberg, P., Douek, D. C., & Markert, M. L. (2013). Thymus transplantation restores the repertoires of forkhead box protein 3 (FoxP3)+ and FoxP3− T cells in complete DiGeorge anomaly. Clinical & Experimental Immunology, 173(1), 140-149.

Davies, E. G. (2013). Immunodeficiency in DiGeorge syndrome and options for treating cases with complete athymia. Frontiers in immunology, 4.

Digilio, M.C., Giannotti, A., Castro, M., Colistro, F., Ferretti, F., Marino, B., & Dallapiccola, B. (2003). Screening for celiac disease in patients with deletion 22q11.2 (DiGeorge/Velo-cardio-facial Syndrome). Am J Med Genetics, 121A(3), 286-288.

Djulbegovic, B., Hadley, T., &Yen, F. (1991). Occurrence of high-grade T-cell lymphoma in a patient with Philadelphia chromosomenegativechronic myelogenous leukemia with breakpoint cluster region rearrangement: case report and review of the literature. American Journal of Hematology, 36(1), 63-4.

Duke, S.G., McGuirt, W.F.Jr., Jewett, T., & Fasano, M.B. (2000). Velocardiofacial syndrome: incidence of immune cytopenias. Arch Otolaryngol Head Neck Surgery, 126(9), 1141-5.

Frippiat, J.P., Williams, S.C., Tomlinson, I.M., Cook, G.P., Cherif, D., Le Paslier, D.,…Lefranc, M.P. (1995).Organization of the human immunoglobulin lambda light-chain locus on chromosome 22q11.2. Hum Mol Genetics, 4(6), 983-91.

Gennery, A. R. (2013). Immunological features of 22q11 deletion syndrome.Current opinion in pediatrics, 25(6), 730-735.

Hough, C.A., White, B.N., & Holden, J.J. (1995). Absence of lambda immunoglobulin sequences on the supernumerary chromosome ofthe “cat eye” syndrome. Am J Med Genetics, 58(3), 277-81.

Ip, W., Zhan, H., Gilmour, K. C., Davies, E. G., & Qasim, W. (2013). 22q11. 2 Deletion Syndrome with Life-Threatening Adenovirus Infection. The Journal of pediatrics.

James, J. M. (2013). Immunoglobulin Deficiencies: The B-Lymphocyte Side of DiGeorge Syndrome. Pediatrics, 132(Supplement 1), S50-S51.

Jawad, A.F., McDonald-Mcginn, D.M., Zackai, E., & Sullivan, K.E. (2001). Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge Syndrome/velocardiofacial syndrome). The Journal of Pediatrics, 139(5), 715-723.

Kim, H. J., Jo, H. S., Yoo, E. G., Chung, I. H., Kim, S. W., Lee, K. H., & Chang, Y. H. (2013). 22q11. 2 Microduplication with Thyroid Hemiagenesis.Hormone research in paediatrics, 79(4), 243-249.

Kim, K. Y., Hur, J., Kim, K. H., Cha, Y. J., Lee, M. J., & Kim, D. S. (2013). A case of DiGeorge syndrome who developed lymphoproliferative mediastinal mass. Korean Journal of Pediatrics.

Kornfeld, S. J., Zeffren, B., Christodoulou, C. S., Day, N. K., Cawkwell, G., & Good, R. A. (2000). DiGeorge anomaly: a comparative study of the clinical and immunologic characteristics of patients positive and negative by fluorescence in situ hybridization. J Allergy Clin Immunology, 105(5), 983-7.

Martin Mateos, M.A., Pérez Dueñas, B.P., Iriondo, M., Krauel, J., & Gean Molins, E. (2000). Clinical and immunological spectrum of partial DiGeorge syndrome. J Investig Allergol Clin Immunology, 10(6), 352-60.

Moran, T. P., & Vickery, B. P. (2013). Impaired Intrinsic Immunity to HSV-1 in Human iPSC-Derived TLR3-Deficient CNS Cells. Pediatrics, 132(Supplement 1), S51-S52.

Nakagawa, M., Sugiyama, H., Ogawa, H., Tone, S., Morishita, H. Ikeda, H.,…Kishimoto T. (1995). Intermediate lymphocytic lymphoma with both t(14;19)(q32.3;q13.1) and t(3;22)(q27;q11.2). Cancer Genet Cytogenetics, 79(1), 89-91.

Pierdominici, M., Marziali, M., Giovannetti, A., Oliva, A., Rosso, R., Marino, B., et al. (2000). T cell receptor repertoire and function in patients with DiGeorge syndrome and velocardiofacial syndrome. Clin Exp Immunology, 121(1), 127-32.

Soldatou, A., Anastassiou, T., Vougiouka, O., Goussetis, E., & Kossiva, L. (2013). Transient Effect of Anti-CD20 Therapy in a Child With 22q11. 2 Deletion Syndrome and Severe Steroid Refractory Cytopenias: A Case Report. Journal of pediatric hematology/oncology, 35(4), 311-314.

Suniara, R.K., Jenkinson, E. J., & Owen, J.J.T. (2000). An Essential Role for Thymic Mesenchyme in Early T Cell Development. J Exp Med., 191(6),1051-1056.

Sullivan, K. E., Jawad, A. F., Randall, P., Driscoll, D. A., Emanuel, B. S., McDonald-McGinn, D. M., & Zackai, E. H. (1998). Lack of correlation between impaired T cell production, immunodeficiency, and other phenotypic features in chromosome 22q11.2 deletion syndromes (DiGeorge Syndrome/Velocardiofacial Syndrome). Clinical Immunology and Immunopathology, 86(2),141-146.

Tam, P. Y. I., Hanisch, B. R., Klammer, K., & DeVries, A. S. (2014). Measles Vaccine Strain From the Skin Rash of a DiGeorge Patient Receiving Tumor Necrosis Factor Inhibitor. The Pediatric infectious disease journal, 33(1), 117.

Williams, S.C., Frippiat, J.P., Tomlinson, I.M., Ignatovich, O., Lefranc, M.P., & Winter, G. (1996). Sequence and evolution of the humangermline V lambda repertoire. J Mol Biology, 264(2), 220-32.

Hematology

Arico, M., Bettinelli, A., Maccario, R., Clementi, R., Bossi, G., & Danesin, C. (1999). Hemophagocytic Lymphohistiocytosis in a patient with deletion of 22q11.2. Am J Med Genetics, 87(4), 329-330.

Budarf, M.L., Konkle, B.A., Ludlow, L.B., Michaud, D., Li, M., Yamashiro, D.J.,…Driscoll, D.A. (1995). Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomalregion in 22q11.2. Hum Mol Genetics, 4(4), 763-6.

Kelly, M.D., Essex, D.W., Shapiro, S.S., Meloni, F.J., Druck, T., Huebner, K., & Konkle, B.A. (1994). Complementary DNA cloning of the alternatively expressed endothelial cell glycoprotein Ib beta (GPIb beta) and localization of the GPIb beta gene to chromosome 22. Journal of Clinical Investigation, 93(6), 2417-24.

Lévy, A., Michel, G., Lemerrer, M., & Philip, N. (1997). Idiopathic Thrombocytopenic Purpura in Two Mothers of Children with DiGeorge Sequence: A New ComponentManifestation of Deletion 22q11? Am J Med Genetics, 69(4), 356-359.

Ludlow, L.B., Schick, B.P., Budarf, M.L., Driscoll, D.A., Zackai, E.H., Cohen, A., & Konkle, B.A. (1996). Identification of a mutation in a GATAbinding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome. J Biol Chem., 271(36), 22076-80.

Nakagawa, M., Okuno, M., Okamoto, N., Fujino, H., & Hirofumi, K. (2001). Bernard-Soulier syndrome associated with 22q11.2 microdeletion. Am J Med Genetics, 99(4), 286-288.

Séguin, C. (2013). A Case Of Refractory Autoimmune Hemolytic Anemia In a Patient With Digeorge Syndrome Treated Successfully With Plasma Exchange.Blood, 122(21), 4829-4829.

Yagi, M., Edelhoff, S., Disteche, C.M., & Roth, G.J. (1994). Structural characterization and chromosomal location of the gene encodinghuman platelet glycoprotein Ib beta. Journal of Biological Chemistry, 269(26), 17424-7.

Genitourinary

Devriendt, K., Van Schoubroeck, D., Eyskens, B., Vantrappen, G., Swillen, A., Gewillig, M., Dumoulin, M., Moerman, P., Vandenberghe, K., & Fryns, J.P. (1998). Polyhydramnios as a Prenatal Symptom of the DiGeorge/Velo-Cardio Facial Syndrome. Prenatal Diagnosis, 18(1), 68-72.

Goodship, J., Robson, S.C., Sturgiss, S., Cross, L.E., & Wright, C. (1997). Renal Abnormalities on Obstetric Ultrasound as a presentation of DiGeorge Syndrome. Prenatal Diagnosis, 17(9), 867-870.

Newsham, I., Daub, D., Besnard-Guerin, C., & Cavenee, W. (1994). Molecular sublocalization and characterization of the 11;22 translocation breakpoint in a malignant rhabdoid tumor. Genomics, 19(3), 433-40.

Ota, S., Crabbe, D.C., Tran, T.N., Triche, T.J., & Shimada, H. (1993). Malignant rhabdoid tumor. A study with two established cell lines. Cancer, 71(9), 2862-72.

Stewart, T. L., Irons, M. B., Cowan, J. M., Bianchi, D. W. (1999). Increased Incidence of Renal Anomalies in Patients with Chromosome 22q11 Microdeletion. Teratology, 59, 20-22.

Sundaram,U.T., McDonald-McGinn, D.M., Huff D., Emanuel, B.S., Zackai, E.H., Driscoll, D.A., Bodurtha J (2007) Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome. Am J Med Genetics, 143(17), 2016-8.

Wu, H.Y., Rusnack, S.L., Bellah, R.D., Plachter, N., McDonald-McGinn, D.M., Zackai, E.H., & Canning, D.A. (2002). Genitourinary Malformations in Chromosome 22q11.2 Deletion. The Journal of Urology, 168(6), 2564-2565.

Endocrinology

Adachi, M., Tachibana, K., Masuno, M., Makita, Y., Maesaka, H., Okada, T.,…Suwa, S. (1998). Clinical Characteristics of Children with Hypoparathyroidism due to 22q11.2 Microdeletion. Eur J Pediatrics, 157(1), 34-38.

Almeida, J. R., James, A. L., Papsin, B. C., Weksburg, R., Clark, H., & Blaser, S. . (2009). Thyroid gland and carotid artery anomalies in 22q11.2 deletion syndromes. Laryngoscope, 119(8), 1495-1500.

Barrea, C., Yoo, S.J., Chitayat, D., Valsangiacomo, E., Winsor, E., Smallhorn, J.F., & Hornberger, L.K. (2003). Assessment of the thymus at echocardiograophy in fetuses at risk for 22q11.2 deletion. Prenatal Diagnosis, 23(1), 9-15

Bish, J., Nguyen, V., Ding, L., Ferrante, S., & Simon, T. (2004). Thalamic reductions in children with chromosome 22q11.2 deletion syndrome. NeuroReport, 15(9), 1413-1415.

Craigen, W.J., Lindsay, E.A., Bricker, J.T., Hawkins, E.P., & Baldini, A. (1997). Deletion of Chromosome 22q11 and Pseudohypoparathyroidism. Am J Med Genetics, 72(1), 63-65.

Cuneo, B.F., Driscoll, D.A., Gidding, S.S., & Langman, C.B. (1997). Evolution of Latent Hypoparathyroidism in Familial 22q11 Deletion Syndrome. Am J Med Genetics, 69(1), 50-55.

Fadhil, K., Shah, M., Parker, M., & Orjioke, N. (2013). Sarcoidosis and Hypocalcemia an Unusual Combination, DiGeorge Variant In Adulthood. Chest,144(4_MeetingAbstracts), 954A.

Garcia-Garcia, E., Camacho-Alonso, J., Gomez-Rodriguez, M. J., del Castillo, E., Martinez-Aedo, & Lopez-Siguero, J.P. (2000). Transient congenital hypoparathyroidism and 22q11 deletion. J Pediatr Endocrinol Metab., 13(6), 659-61.

Havkin, N., Tatum, S. A., & Shprintzen, R. J. (2000). Velopharyngeal insufficiency and articulation impairment in velo-cardio-facial syndrome: the influence of adenoids on phonemic development. Int J Pediatr Otorhinolaryngology, 54(2-3),103-10.

Kapadia, C. R., Kim, Y. E., McDonald-McGinn, D. M., Zackai, E. H., Levitt-Katz, L. E. (2008) Parathyroid hormone reserve in 22q11.2 deletion syndrome. Genet Med., 10(3), 224-228.

Kawame, H., Adachi, M., Tachibana, K., Kurosawa, K., Ito, F., Gleason, M.M.,…McDonald-McGinn, D.M. (2001). Graves Disease in patients with 22q11.2 deletion. The Journal of Pediatrics, 139(6), 892-895.

Kawamura, T., Nimura, I., Hanafusa, M., Fujikawa, R., Okubo, M., Egusa, G., & Amakido, M. (2000). DiGeorge syndrome with Graves’ disease: A case report. Endocr J., 47(1), 91-5.

Korpaisarn, S., Trachoo, O., & Sriphrapradang, C. (2013). Chromosome 22q11. 2 Deletion Syndrome Presenting as Adult Onset Hypoparathyroidism: Clues to Diagnosis from Dysmorphic Facial Features. Case reports in endocrinology, 2013.

Markert, M.L., Boeck, A., Hale, L.P., Kloster, A.L., McLaughlin, T.M., Batchvarova, M.N.,…Haynes, B.F. (1999). Transplantation pf Thymus Tissue in Complete DiGeorge Syndrome. N Engl J Med., 341(16),1180-1189.

Perkins, J. A., Sie, K., & Gray, S. (2000). Presence of 22q11 deletion in postadenoidectomy velopharyngeal insufficiency. Arch Otolaryngol Head Neck Surgery, 126(5), 645-8.

Stagi, S., Lapi, E., Gambineri, E., Salti, R., Genuardi, M., Colarusso, G.,…de Martino, M. (2009, October 26). Thyroid function and morphology in subjects with microdeletion of chromosome 22q11(del(22)(q11). Clinical Endocrinology, [Epub ahead of print].

Yoshikawa, H & Abe, T. (2003). Hypoparathyroidism and facial dysmorphism as main symptoms of 22q11 deletion syndrome. Brain and Development, 25(3), 211-214.

Zammit, A., Grech Marguerat, D., Psaila, J., & Attard, A. (2013). DiGeorge Syndrome Presenting as Hypocalcaemia-Induced Seizures in Adulthood. Case reports in medicine, 2013.

Clinical Diagnosis

Akiba, T., Odake, A., Shirahata, E., Matsunaga, A., Sakamoto, M., & Yazaki, N. (2000). Three patients with different phenotypes in a family with chromosome 22q11.2 deletions. Pediatr Int., 42(2),183-5.

Chen, C., Chern, S., Lee, C, Lin, S., Chang, T., & Wang, W. (2004). Prenatal diagnosis of mosaic 22q11.2 microdeletion. Prenatal Diagnosis, 24(8), 660-2.

Cohen, E., Chow, E.W., Weksberg, R., & Bassett, A.S. (1999). Phenotype of Adults With the 22q11 Deletion Syndrome: A Review. Am J Med Genetics, 86, 359-365.

Cuneo, B. F. (2001). 22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes. Current Opinion in Pediatrics, 13(5), 465-472.

de Lonlay-Debeney, P., Cormier-Daire, V., Amiel, J., Abadie, V., Odent, S., Paupe, A.,… Lyonnet, S. (1997). Features of DiGeorge Syndrome and CHARGE association in five patients. J Med Genetics, 34(12), 986-989.

Digilio, M. C. (2003). Research Letter: Screening for Celiac Disease in Patients with Deletion 22q11.2 (DiGeorge/Velo-Cardio-Facial Syndrome). Am J Med Genetics, 121A, 286-288.

Digilio, M., Angioni, A., De Santis, M., Lombardo, A., Giannotti, A., Dallapiccola, B., & Marino, B. (2003). Spectrum of clinical variability in familial deletion 22q11.2: From full manifestation to extremely mild clinical cases. Clinical Genetics,63(4), 308-313(6).

Emanuel, B.S., McDonald-McGinn, D., Saitta, S.C., & Zackai, E.H. (2001). The 22q11.2 Deletion Syndrome – Chapter 2. Advances in Pediatrics, 8, 39-73.

Fokstuen, S., Vrticka, K., Riegel, M., Da Silva, V., Baumer, A., & Schinzel, A. (2001). Velofacial hypoplasia (Sedlackova syndrome): a variant of velocardiofacial (Shprintzen) syndrome and part of the phenotypical spectrum of del 22q11.2. Eur J Pediatr., 160, 54-57.

Goodship, J., Cross, I., Scambler, P., & Burn, J. (1995). Monozygotic twins with chromosome 22q11 deletion and discordant phenotype. J Med Genetics, 32(9), 746-8.

Hong R. (2001). The DiGeorge Anomaly. Clin Rev Allergy Immunology, 20(1), 43-60.

Jyonouchi, S., McDonald-McGinn, D. M., Bale, S., Zackai, E. H., Sullivan, K. E. (2009) CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features. Pediatrics, 123 (5), e871-7.

Kasprzak, L., Der Kaloustian, V.M., Elliott, A.M., Shevell, M., Lejtenyi, C., & Eydoux, P. (1998). Deletion of 22q11 in Two Brothers with Different Phenotype. Am J Med Genetics, 75(3), 288-291.

Kerstjens-Frederikse, W.S., Kurahashi, H., Driscoll, D.A., Budarf, M.L., Emanuel, B.S., Beatty, B.,…Teshima, I. (1999). Microdeletion 22q11.2: Clinical Data and Deletion Size. J Med Genetics, 36(9), 721-723.

Koshiyama, D.B., Rosa, R.F., Zen, P.R., Pereira, V.L., Graziadio, C., Cóser, V.M., Ricachinevsky, C.P., Varella-Garcia, M., & Paskulin, G.A. (2009). 22q11.2 deletion syndrome: importance of clinical evaluation and FISH analysis. Rev Assoc Med Bras., 55(4), 442-6.

Levy-Mozziconacci, A., Piquet, C., Heurtevin, P.C., & Philip, N. (1997). Prenatal Diagnosis of 22q11 Microdeletion. Prenat Diagnosis, 17(11), 1033-1037.

Matsuoka, R., Kimura, M., Scambler, P.J., Morrow, B.E., Imamura, S., Minoshima, S.,…Momma, K. (1998). Molecular and Clinical Study of 183 Patients with Conotruncal Anomaly Face Syndrome. Human Genetics, 103(1), 70-80.

McDonald-McGinn, D.M., Minugh-Purvis, N., Kirschner, R.E., Jawad, A., Tonnesen, M.K., Catanzaro, J.R.,…Zackai, E. H. (2005). The 22q11.2 Deletion in African-American Patients: An Underdiagnosed Population? Am J Med Genetics, 134(3), 242-246.

Morava, E., Czako, M., Melegh, B., & Kosztolanyi, G. (2000). Velo-cardio-facial phenotype and deletion of 22q11.2 in Hungarian children. Clinical Genetics, 58(5), 403.

Ravnan, J.B., Chen, E., Golabi, M., & Lebo, R.V. (1996). Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations. Am J Med Genetics, 66(3), 250-6.

Ryan, A.K., Goodship, J.A., Wilson, D.I., Philip, N., Levy, A., Seidel, H.,…Scambler P.J. (1997). Spectrum of Clinical Features Associated with Interstitial Chromosome 22q11 Deletions: A European CollaborativeStudy. J Med Genetics, 34(10), 798-804.

Sánchez-Ramón, S., Bartolomé, J., Sánchez-Luna, M., Franco, M.L., Orera, M., Fernández-Cruz, E., Fernández-Pacheco, R.P., & Gil, J. (2000). Polydactyly in 22q11 syndrome: should it be taken into account? Clin Genetics, 58(1), 84-5.

Verhoeven, W.M.A., Tuinier, S., Engelen, J.J.M., Hollanders-Crombach, H.T.M., & Curfs, L.M.G. (2002). Velo-cardio-facial Syndrome: Clinical Report of a 70-year-old woman. Am J. Med Genetics, 111(4), 409-411.

Yamagishi, H., Ishii, C., Maeda, J., Kojima, Y., Matsuoka, R., Kimura, M., Takao, A., Momma, K., & Matsuo, N. (1998). Phenotypic Discordance in Monozygotic Twins with 22q11.2 Deletion. American Journal of Medical Genetics, 78(4), 319-321.

General Research

Botto, L.D., May, K., Fernhoff, P.M., Correa, A., Coleman, K., Rasmussen, S.A., Campbell, R.M. (2003). A Population-Based Study of the 22q11.2 deletion: Phenotype, Incidence, and Contribution to Major Birth Defects in the Population. Pediatrics, 112 (1 Pt 1), 101-7.

Kobrynski, L.J., Sullivan, K.E. (2007). Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndrome. Lancet, 370, 1443-1452.

de la Morena, M. T., Eitson, J. L., Dozmorov, I. M., Belkaya, S., Hoover, A. R., Anguiano, E., … & van Oers, N. S. (2013). Signature MicroRNA expression patterns identified in humans with 22q11. 2 deletion/DiGeorge syndrome.Clinical Immunology.

Kikinis, Z., Makris, N., Finn, C. T., Bouix, S., Lucia, D., Coleman, M. J., … & Kubicki, M. (2013). Genetic contributions to changes of fiber tracts of ventral visual stream in 22q11. 2 deletion syndrome. Brain imaging and behavior, 1-10.

McDonald-McGinn, D. M., Fahiminiya, S., Revil, T., Nowakowska, B. A., Suhl, J., Bailey, A., … & Jerome-Majewska, L. A. (2013). Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11. 2DS. Journal of medical genetics, 50(2), 80-90.

McDonald-McGinn, D.M., Sullivan, K.E. (2010). Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine (Baltimore), 90(1), 1-18.

Roberts, C. (2013).The role of putative Tbx1 traget genes in the pathogenesis of the 22q11 Deletion Syndrome phenotype (Doctoral dissertation, UCL (University College London)).

Roth, B. M., Ishimaru, D., & Hennig, M. (2013). The core microprocessor component DiGeorge syndrome critical region 8 (DGCR8) is a nonspecific RNA-binding protein. Journal of Biological Chemistry, 288(37), 26785-26799.

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