What is 22q11.2 deletion syndrome?
22q11.2 deletion syndrome affects as many as 1 in 2,000 to 1 in 4,000 people worldwide. The syndrome was formerly known by several different names, including DiGeorge syndrome, velocardiofacial syndrome (VCFS), and Sphrintzen syndrome, but now we understand that these are all linked to the same chromosomal difference.
22q11.2 deletion syndrome occurs when a small amount of genetic material, known as a microdeletion, is missing on chromosome 22. As a result of the deletion, many body organs may be affected.
Not all children are affected in the same way—in fact, the condition can range from very mild, almost unnoticeable concerns to complex differences involving multiple systems of the body.
Symptoms of 22q11.2 deletion syndrome
Your child’s doctor may consider a diagnosis of 22q11.2 deletion syndrome if your child has one or more of the following issues:
- Certain heart defects present at birth
- Low calcium levels
- Immune system problems (i.e. a child with multiple infections)
- Cleft palate
- Speech and/or swallowing difficulties
- Behavior and learning disabilities
What is 22q11.2 duplication?
22q11.2 duplication is caused by an extra piece of genetic material on the 22nd chromosome. The duplication can cause a wide range of health issues. However, many children have no noticeable symptoms.
Symptoms of 22q11.2 duplication
Some symptoms that can occur include:
- Hypotonia (low muscle tone)
- Developmental delays
- Intellectual disability
- Psychiatric illness
Children with 22q duplication may also exhibit any of the features associated with 22q deletion.