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Lookup NU author(s): Dr David Wilson, Ian Cross, Professor Judith Goodship, Dr Sally Coulthard, Dr Hugh Bain, Dr Archibold Hunter, Professor Sir John BurnORCiD
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DiGeorge syndrome was diagnosed in an infant who had an interrupted aortic arch, hypoparathyroidism, and low T lymphocyte numbers. Two siblings had heart defects that are not commonly described in DiGeorge syndrome (a membranous ventricular septal defect and coarctation of the aorta respectively. These siblings did not have evidence of thymic dysfunction or hypoparathyroidism. Chromosome analysis showed that the mother, whose cardiovascular examination was normal, and her three offspring with heart defects had a 22q11 interstitial deletion, which was confirmed by molecular analysis. This family suggests that 22q11 deletions can cause apparently isolated heart defects and that the range of these defects may be wider than previously recognised. Once the genes that are deleted in this family are characterised they will be useful candidate genes in the investigation of isolated cardiac malformations.
Author(s): Wilson DI, Cross IE, Goodship JA, Coulthard S, Carey AH, Scambler PJ, Bain HH, Hunter AS, Carter PE, Burn J
Publication type: Article
Publication status: Published
Journal: British Heart Journal
Year: 1991
Volume: 66
Issue: 4
Pages: 308-312
Print publication date: 01/10/1991
ISSN (print): 0007-0769
ISSN (electronic): 1355-6037
URL: http://dx.doi.org/10.1136/hrt.66.4.308
DOI: 10.1136/hrt.66.4.308
PubMed id: 1747284
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