Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes)

Chromosome 22q11.2 deletion syndrome occurs in approximately 1 of 3000 children. Clinicians have defined the phenotypic features associated with the syndrome and the past 5 years have seen significant progress in determining the frequency of the deletion in specific populations. As a result, caregivers now have a better appreciation of which patients are at risk for having the deletion. Once identified, patients with the deletion can receive appropriate multidisciplinary care. We describe recent advances in understanding the genetic basis for the syndrome, the clinical manifestations of the syndrome, and new information on autoimmune diseases in this syndrome.