[DiGeorge syndrome. Velocardiofacial syndrome/chromosome 22q11 deletion syndrome]

Patients with a deletion of chromosome band 22q11 are described as having DiGeorges syndrome, velocardiofacial syndrome or chromosome 22q11 deletion syndrome depending on clinical manifestations. The patients have variable severity and combinations of conotruncal heart defects, abnormalities of the ear and palate, facial dysmorphism and mental retardation as well as partial or complete aplasia/hypoplasia of the thymus and endocrine dysfunction, e.g. hypoparathyroidism. The patients may present with impaired immune function, heart failure, hypocalcaemia, facial dysmorphism, impaired hearing and mental retardation. The syndrome, which is a significant cause of heart and craniofacial defects as well as mental retardation, is probably underdiagnosed. In each of the above mentioned phenotypical presentations, chromosome 22q11 deletion syndrome should be considered.