DiGeorge Syndrome

Bamforth, SD; Burn, J

doi:10.1016/B978-0-12-374984-0.00402-2

DiGeorge Syndrome

Lookup NU author(s): Dr Simon Bamforth ORCiD, Professor Sir John Burn ORCiD

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Abstract

© 2013 Elsevier Inc. All rights reserved. In 1965, DiGeorge recognized the association of hypocalcemia secondary to parathyroid hypoplasia and the absence of the thymus. As additional cases were reported, it became clear that cardiovascular malformations and facial dysmorphism were often present as well. It was reported in the early 1990s that a proportion of children with DiGeorge syndrome had chromosomal deletions within band 22q11. As techniques were developed to detect sub-microscopic deletions, it became apparent that 95% of affected children had such deletions. It has also become clear that there is a very wide phenotypic spectrum associated with this deletion, and each clinical feature related to the syndrome will not be found in every case.