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DiGeorge Syndrome

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

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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.


Publication metadata

Author(s): Bamforth SD, Burn J

Editor(s): Stanley Maloy and Kelly Hughes

Publication type: Book Chapter

Publication status: Published

Book Title: Brenner's Encyclopedia of Genetics

Year: 2013

Pages: 319-321

Online publication date: 01/05/2013

Edition: 2nd

Publisher: Academic Press

URL: https://doi.org/10.1016/B978-0-12-374984-0.00402-2

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

Library holdings: Search Newcastle University Library for this item

ISBN: 9780080961569


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