DiGeorge Syndrome

Anthony R Hayward and David Manchester, University of Colorado School of Medicine, Denver, Colorado, USA

Copyright © 1998 Elsevier Ltd. All Rights Reserved.

DiGeorge reported in 1965 the occurrence of thymic hypoplasia and hypoparathyroidism in infants with congenital heart disease. Reviews of DiGeorge syndrome in the 1970s described a diverse collection of phenotypic features that, a decade later, came to be understood as a developmental field defect, designated DiGeorge sequence (DGS), attributed to failed differentiation and migration of cephalic neural crest cells. Only a few cases were familial so the etiology was generally assumed to involve some environmental damage to the developing embryo. The most significant advance has been the identification of microdeletions on human chromosome 22q in most patients with DGS. Mapping and sequencing of genes on the affected area now promises a better understanding of the mechanisms responsible for the maldevelopment of the third and fourth pharyngeal pouches in DGS.

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