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Ventricular noncompaction and distal chromosome 5q deletion

✍ Scribed by Pauli, Richard M.; Scheib-Wixted, Susan; Cripe, Linda; Izumo, Seigo; Sekhon, Gurbax S.

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 27 KB
Volume: 85
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990806)85:4<419::aid-ajmg21>3.0.co;2-s

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✦ Synopsis

We describe a 7 1/2-year-old girl with mildly unusual phenotype and complex heart disease including ventricular myocardial noncompaction. She was found to have a distal 5q deletion, del(5)(q35.1q35.3). Fluorescent in situ hybridization showed that this deletion included the locus for the cardiac specific homeobox gene, CSX. This suggests that some instances of ventricular myocardial noncompaction may be caused by haploinsufficiency of CSX. Am. J. Med. Genet. 85:419-423, 1999.

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