22q11.2 Deletion Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly.

**Synonyms:** - 22q Deletion Syndrome(s) - 22q11 deletion - CATCH-22 - DGS1 - DiGeorge Anomaly - DiGeorge Sequence - DiGeorge Syndrome - DiGeorge Syndrome - DiGeorge Syndrome Type 1 - DiGeorge syndrome - DiGeorge's Syndrome - FACES - Shprintzen Syndrome - Shprintzen syndrome