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DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin

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.

Publication metadata

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


DOI: 10.1136/hrt.66.4.308

PubMed id: 1747284


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