Overview
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a genetic condition that can affect many parts of your body and causes heart abnormalities, an impaired immune system and developmental delays. If you’re diagnosed with DiGeorge syndrome, you’re missing a small piece of chromosome 22. Symptoms of DiGeorge syndrome can range from mild to severe. The most severe symptoms can be life-threatening.
Who does DiGeorge syndrome affect?
DiGeorge syndrome (22q11.2 deletion syndrome) can affect anyone since 90% of cases occur as a result of a random deletion on chromosome 22. This happens when the egg and sperm meet in the early stages of fetal development. The rate of occurrence is unpredictable. This condition isn’t caused by something the parents did before or during pregnancy.
In 10% of cases, some people can inherit 22q11.2 deletion syndrome from one parent who has the condition (autosomal dominant). Only one copy of the chromosome from one parent is necessary for the child to inherit the condition.
How common is DiGeorge syndrome?
DiGeorge syndrome isn’t common. About 1 in 4,000 people in the U.S. receive a 22q11.2 deletion syndrome diagnosis annually. Some studies suggest that this estimate could be more common since the condition is underdiagnosed.
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