What Is 22q11.2 Deletion Syndrome (DiGeorge Syndrome)?
22q11.2 deletion syndrome is a genetic condition that some babies are born with. A genetic condition happens when there is a problem with a part of a child's DNA. 22q11.2 deletion syndrome can affect many different systems in the body. The problems it causes can range in severity.
22q11.2 deletion syndrome is called 22qDS or 22q for short.
What Causes 22q11.2 Deletion Syndrome (DiGeorge Syndrome)?
People diagnosed with 22q are missing a piece of DNA from the 22nd chromosome. The missing DNA includes several genes that affect how the body develops.
Most often, 22q deletion happens because of a random gene mutation (change) in the early stages of pregnancy. But it also can be inherited (passed down from a parent to their child).
What Are the Signs & Symptoms of 22q11.2 Deletion Syndrome (DiGeorge Syndrome)?
The body systems affected are different in each person. Some children with 22q will have one or two symptoms, and others will have several more.
a check of calcium levels and infection-fighting cells in the baby's blood
genetic tests of the baby, siblings, and parents
Later in life. Some people with 22q are diagnosed when they are older through genetic testing.
How Is 22q11.2 Deletion Syndrome (DiGeorge Syndrome) Treated?
Some children may need surgery soon after birth to fix problems related to their heart, breathing, or feeding. All children with 22q need regular visits with a team of specialists to do routine checks.
This team often includes doctors with special training in:
Go to medical appointments. Take your child to all scheduled checkups and any follow-up appointments with specialists.
Set up therapy care when needed. Help your child build and strengthen life skills. Set up speech therapy and physical therapy visits, or other care that doctors and nurses recommend. If your child has a hard time paying attention, or feels anxious or sad often, ask the doctor if therapy with a mental health provider could help.
Connect with others for support and awareness. Join a 22q support group to find other parents who share similar experiences.
Reviewed by: Brian C. Kellogg, MD and Ani Danelz, MA, CCC-SLP