An Overview of 22q

22q Foundation

Because of the way our understanding of the 22q11.2 deletion evolved, several different names continue to be used for what we now know to be the same condition. These older terms include DiGeorge syndrome (DGS), velo-cardio-facial syndrome (VCFS), conotruncal anomaly face syndrome (CTAF), Opitz G/BBB syndrome, and Cayler cardiofacial syndrome. Genetically speaking, there is no detectable difference in the microdeletions found in people with VCFS versus those with DGS or the other related syndromes. Individuals with these diagnoses all have the same underlying condition: the 22q11.2 deletion syndrome. Rather than further dividing our small 22q community, the Foundation aims to bring us all together by educating the public and professionals about the deletion's many names. Learn about the Foundation's Same Name Campaign.

Further complicating the 22q story, a known deletion involving different genes further down the chromosome is associated with an entirely unrelated and far less common disorder called 22q13 deletion or Phelan-McDermid syndrome. If you are looking for information about 22q13, please visit the Phelan-McDermid Syndrome Foundation.

The  Syndrome

A syndrome is a recognizable pattern of physical and behavioral features. The 22q11.2 deletion syndrome is caused by a missing section (microdeletion) of chromosome 22 which is present from the time a child is conceived. Present in 1 out of every 2,000-4,000 live births, in 1 in 68 children with congenital heart disease, and in 5 to 8 percent of children born with cleft palate, the 22q11.2 deletion is almost as common as Down syndrome, a widely recognized chromosomal disorder. The deletion has the potential to affect almost every system in the body and can cause a wide range of health problems. No two people are ever exactly alike, even when they have the same syndrome, and not every person with the deletion is affected in the same way. Though not always present, the key characteristics of this syndrome include combinations and varying degrees of:

  • heart defects
  • palate differences
  • feeding and gastrointestinal difficulties
  • immune system deficits
  • growth delay
  • kidney problems
  • hearing loss
  • low calcium and other endocrine issues
  • cognitive, developmental and speech delays
  • behavioral, emotional, and psychiatric differences (ADHD, autism, anxiety, etc.)

 

Inheritance

The 22q11.2 deletion is most often a "de novo" event, meaning that it is not inherited from either parent and does not usually run in a family. Only about 10% of children with the 22q11.2 deletion have a parent who is also affected. In the majority of individuals, the deletion happens sporadically without a previous family history of the condition. There is nothing the parents did or failed to do that caused the deletion to occur. For parents who do not have the deletion, the chance that a future child might be affected is very low. For individuals with the 22q11.2 deletion, there is a 50% chance of passing on the deletion to a child with each pregnancy. Individuals within the same family who have the deletion may or may not be similarly affected. For example, a mother could have very mild manifestations of the 22q11.2 deletion, while her child may have a severe heart defect needing surgery immediately after birth.

Treatment

Although there is no cure for the 22q11.2 deletion, many therapies and medical interventions are available to help address its associated symptoms. The earlier these symptoms are detected, the more doctors can do to help. That’s why, when diagnosed with this condition, evaluation is recommended in the following areas:

  • Audiology
  • Cardiology
  • Child development and psychology
  • Cleft palate
  • Ear, nose and throat
  • Endocrinology
  • Feeding / nutrition
  • Genetics
  • Immunology
  • Neurology
  • Orthopedics
  • Urology

 

Cardiology

Even if a child doesn't have a known heart defect, a cardiologist's evaluation is important, although the likelihood of finding a previously unrecognized problem is low. An evaluation usually includes a chest X-ray, an electrocardiogram, and an echocardiogram.

Child development and psychology

Children with a 22q11.2 deletion may have learning style differences requiring some extra help in school.  In addition, young children may have delays in their developmental milestones and might benefit from early intervention, such as physical, occupational, and speech therapy. That's why it's important to have developmental testing on a regular basis.  If your child is noted to be behind in any areas, appropriate interventions will be recommended. 

Cleft palate

Children with the deletion should see a plastic surgeon who specializes in cleft palate and velopharyngeal incompetence. In addition, they should see a speech and language pathologist who can also evaluate speech, language and -- if they're young -- feeding. Some centers have specialized computer methods of objectively measuring speech to decide if intervention is necessary. Some teams also have growth specialists and dentists who monitor face, jaw, and tooth growth.

Ear, nose and throat (ENT) / Audiology

This evaluation may be done as part of the cleft palate team work-up. Children with a cleft palate often have trouble with ear infections and can benefit from seeing an ear, nose and throat (ENT) doctor -- also called an otolaryngologist. In addition, an ENT can help children who have problems with "noisy" breathing as a result of their disorder. Since some children with a 22q11.2 deletion may also have hearing loss, your child would benefit from a hearing test (audiogram), as well.

Endocrinology

Some children with a chromosome 22q11.2 have problems with low calcium when they're newborns and may need a calcium supplement. During this time, the cardiologist or pediatrician will handle low calcium problems. If the problem continues, your child may need to see an endocrinologist (hormone doctor).  In addition, some older children have problems with growth (called short stature) and may require growth hormone therapy. An endocrinologist can help.

Feeding/ Nutrition

Children with a 22q11.2 deletion often have feeding difficulties, especially when they're newborns. A pediatrician who specializes in feeding can help. Your child's healthcare provider will only recommend an evaluation if a problem already exists.

Genetics

The geneticist is the person who's most likely to have an overview of your child's diagnosis. The geneticist stays up-to-date with the latest research about the 22q11.2 deletion. It's important for a child with the deletion to have a yearly evaluation, so the geneticist can answer questions about his or her general care, as well as the chances that the disorder will recur in future generations of a family.

Immunology

Many newborns with a 22q11.2 deletion have problems with their immune systems, so they may have trouble with infections or certain vaccines. Most children outgrow this problem by their first birthdays, but some of them continue to have trouble into later childhood and adulthood. In addition, some children develop autoimmune diseases related to their immune deficiency, such as juvenile rheumatoid arthritis, idiopathic thrombocytopenia, vitiligo, and Graves disease. A child with the deletion should be evaluated by an immunologist at least once.

Neurology

Some children with a 22q11.2 deletion have a seizure disorder (unrelated to low calcium) or balance problems which require a neurologist's services. A child's healthcare team should determine if an initial evaluation with a neurologist may be helpful.

Urology

Some children have kidney problems -- even a missing kidney -- which a renal (kidney) ultrasound can detect. In addition, some children have urinary tract infections, urinary reflux, bedwetting or urinary frequency. Children having these types of problems should see a urologist familiar with the chromosome 22q11.2 deletion.

Other symptoms of the 22q11.2 deletion include:

  • constipation
  • leg pain
  • differences in the blood vessels in the neck that lead to the brain (carotid arteries)
  • bone differences, such as extra fingers, extra ribs, a missing forearm bone, and spine problems including abnormal neck bones and also abnormalities
    that sometimes lead to spine curvature (scoliosis)
  • spina bifida
  • juvenile rheumatoid arthritis or other autoimmune disorders
  • eye and vision problems
  • craniosynostosis (premature closure of the fontanels or "soft spots" of the skull)
  • intestinal malrotation
  • diaphragmatic hernia
  • Hirschsprung's disease
  • tracheoesophageal fistula
  • laryngeal web
  • imperforate anus
  • absent uterus

If a child has symptoms in any of these areas, he or she should be referred to a specialist.

Coping with the Diagnosis

Most children and adults with the 22q11.2 deletion do quite well both medically and as members of their families and communities at large.  As with anything that is unexpected, coming to terms with the diagnosis is often difficult at first but becomes easier as more information becomes available. Families can benefit from the opportunity to meet other children and adults with the 22q11.2 deletion and/or to converse with them through diagnosis-specific internet sites. In addition, attendance at family meetings and picnics; contacting support networks; and sending children to camps specifically designed for those individuals with a 22q11.2 deletion is often helpful, as families realize they are not alone. Learn more about coping with the diagnosis.

Need more answers? Visit our page of Frequently Asked Questions.

 

 

 

 

The 22q11.2 Duplication Syndrome

The 22q11.2 Duplication is about half as common as the 22q11.2 deletion (so found in about 1/4000 newborns).  But because there are likely so many individuals who remain undiagnosed, it is hard for doctors to estimate the prevalence of this syndrome.

The duplication has the potential to affect many systems in the body and can cause a wide range of health problems. No two people are ever exactly alike, even when they have the same syndrome, and not every person with the duplication is affected in the same way. Many people with the duplication have no apparent physical or intellectual disabilities.  Often times, parents of children with the duplication find out that they also have it only after their child is diagnosed.

Though not always present, the key characteristics of this syndrome include combinations and varying degrees of:

  • heart defects
  • palate differences
  • feeding and gastrointestinal difficulties including reflux
  • immune system deficits including neutropenia
  • growth delays and short stature
  • weak muscle tone or hypotonia
  • hearing loss
  • occasional endocrine issues including low calcium and thyroid differences
  • cognitive, developmental and speech delays
  • Frequent upper respiratory infections, asthma
  • behavioral and learning differences  including ADHD, autism, Asperger syndrome, etc.
  • seizure disorders
  • macrocephaly , or large head

 

Genetics

The 22q11.2 Duplication is caused by an extra piece of genetic material on the 22nd chromosome.  In most cases, the extra genetic material contains about 40 genes.

Diagnosis

22q11.2 Duplication Syndrome is not detectable by routine genetic testing (called karyotyping.)  Most individuals with 22q11.2 duplication are identified either by something called array genomic hybridization (array GH) testing or by multiplex ligation-dependent probe amplification (MLPA) testing for 22q11.2 deletion syndrome. Both of these tests are performed with blood work but can be diagnosed in pregnancy using cells from the placenta or the amniotic fluid.

Inheritance

About 70 percent of individuals with the duplication inherit it from one of their parents.  In other cases, the duplication is not inherited and occurs as a random event during the formation of the child.  Any person with the duplication has a 50% chance of having a child with the same duplication. 

Treatment

Although there is no cure for the 22q11.2 duplication, many therapies and medical interventions are available to help address its associated symptoms. The earlier these symptoms are detected, the more doctors can do to help. That’s why, when diagnosed with this condition, evaluation is recommended in the following areas:

  • Audiology
  • Cardiology
  • Child development and psychology
  • Cleft palate
  • Ear, nose and throat
  • Feeding / nutrition
  • Genetics
  • Immunology
  • Neurology, Urology and Endocrinology if recommended
  • Orthopedics

 

Cardiology

Even if a child doesn't have a known heart defect, a cardiologist's evaluation is important, although the likelihood of finding a previously unrecognized problem is low. An evaluation usually includes a chest X-ray, an electrocardiogram, and an echocardiogram.

Child development and psychology

Children with a 22q11.2 duplication may have learning style differences requiring some extra help in school.  In addition, young children may have delays in their developmental milestones and might benefit from early intervention, such as physical, occupational, and speech therapy. That's why it's important to have developmental testing on a regular basis.  If your child is noted to be behind in any areas, appropriate interventions will be recommended. 

Cleft palate

Children with the duplication should see a plastic surgeon who specializes in cleft palate and velopharyngeal incompetence. In addition, they should see a speech and language pathologist who can also evaluate speech, language and -- if they're young -- feeding. Some centers have specialized computer methods of objectively measuring speech to decide if intervention is necessary. Some teams also have growth specialists and dentists who monitor face, jaw, and tooth growth.

Ear, nose and throat (ENT) / Audiology

This evaluation may be done as part of the cleft palate team work-up. Children with a cleft palate often have trouble with ear infections and can benefit from seeing an ear, nose and throat (ENT) doctor -- also called an otolaryngologist. In addition, an ENT can help children who have problems with "noisy" breathing as a result of their disorder. Since some children with a 22q11.2 duplication may also have hearing loss, your child would benefit from a hearing test (audiogram), as well.

Endocrinology

Occasionally,  children with a chromosome 22q11.2 duplication have problems with low calcium when they're newborns and may need a calcium supplement. During this time, the cardiologist or pediatrician will handle low calcium problems. If the problem continues, your child may need to see an endocrinologist (hormone doctor).  In addition, some older children have problems with growth (called short stature) and may require growth hormone therapy. An endocrinologist can help.

Feeding/ Nutrition

Children with a 22q11.2 duplication often have feeding difficulties, especially when they're newborns. A pediatrician who specializes in feeding can help. Your child's healthcare provider will only recommend an evaluation if a problem already exists.

Genetics

The geneticist is the person who's most likely to have an overview of your child's diagnosis. The geneticist stays up-to-date with the latest research about the 22q11.2 duplication. It's important for a child with the duplication to have a yearly evaluation, so the geneticist can answer questions about his or her general care, as well as the chances that the disorder will recur in future generations of a family.

Immunology

Some newborns with a 22q11.2 duplication have problems with their immune systems, so they may have trouble with infections or certain vaccines. Most children outgrow this problem by their first birthdays, but some of them continue to have trouble into later childhood and adulthood. A child with the duplication should be evaluated by an immunologist at least once.

Neurology

Some children with a 22q11.2 duplication have a seizure disorder (unrelated to low calcium) or balance problems which require a neurologist's services. A child's healthcare team should determine if an initial evaluation with a neurologist may be helpful.

Coping with the Diagnosis

Most children and adults with the 22q11.2 duplication do quite well both medically and as members of their families and communities at large.  As with anything that is unexpected, coming to terms with the diagnosis is often difficult at first but becomes easier as more information becomes available. Families can benefit from the opportunity to meet other children and adults with the 22q11.2 duplication and/or to converse with them through diagnosis-specific internet sites. In addition, attendance at family meetings and picnics; contacting support networks; and sending children to camps specifically designed for those individuals with a 22q11.2 syndromes is often helpful, as families realize they are not alone. Learn more about coping with the diagnosis.

CONNECT
SHARE
TRANSLATE
Accent Color