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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.

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 202314(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.

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

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! 

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. 

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.

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.

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 (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

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.

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.

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.

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.

“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.

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.

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

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

Read more

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.

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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.

Read more

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

Read more

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.

Read more

Bibliographies of 22q

Find useful research resources by selecting a topic below.

Last updated fall 2015

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.

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.


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.

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.

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

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.

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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

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