DiGeorge syndrome (DGS) is caused by a heterozygous chromosomal deletion at 22q11.2. DiGeorge syndrome (DGS) is associated with defective development of the pharyngeal pouch system. It consists of a triad
- conotruncal cardiac anomalies,
- hypoplastic thymus (causing T cells deficit)
- parathyroid hypoplasia (causing hypocalcemia)
Although the disease is mostly limited to children, a large number of adults reach adulthood and many get diagnosed as a parent of DGS! Adults have relatively lower cardiac anomalies but higher palatal and mental disabilities.
1. Bassett AS, McDonald-McGinn DM, Devriendt K, et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr 2011; 159:332.
2. Cohen E, Chow EW, Weksberg R, Bassett AS. Phenotype of adults with the 22q11 deletion syndrome: A review. Am J Med Genet 1999; 86:359.