what is 22q11.2 deletion syndrome

22q11.2 deletion syndrome, also known as DiGeorge Syndrome, is a genetic disorder caused by the deletion of a small piece of chromosome 22 near the middle of the chromosome at a location designated q11.2. The condition affects an estimated 1 in 4,000 people, but it may be more common than this estimate because it is underdiagnosed due to its variable features. The features of this syndrome vary widely, even among affected members of the same family. People with 22q11.2 deletion syndrome commonly have heart abnormalities that are often present from birth, recurrent infections caused by problems with the immune system, and distinctive facial features. The condition can affect almost any part of the body, and different groupings of features were once described as separate conditions, including DiGeorge syndrome, velocardiofacial syndrome, and conotruncal anomaly face syndrome. The number and severity of symptoms associated with 22q11.2 deletion syndrome vary, but almost everyone with this syndrome needs treatment from specialists in a variety of fields. Some of the medical problems commonly associated with 22q11.2 deletion syndrome include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development with behavioral and emotional problems. Although there is no cure, many therapies and medical interventions are available to help address its associated symptoms.