Ventricular noncompaction and distal chromosome 5q deletion

Authors
Pauli, RM Scheib-Wixted, S Cripe, L Izumo, S Sekhon, GS
Citation
Rm. Pauli et al., Ventricular noncompaction and distal chromosome 5q deletion, AM J MED G, 85(4), 1999, pp. 419-423
Citations number
16
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
01487299 → ACNP
Volume
85
Issue
4
Year of publication
1999
Pages
419 - 423
Database
ISI
SICI code
0148-7299(19990806)85:4<419:VNADC5>2.0.ZU;2-E
Abstract
We describe a 7 1/2-year-old girl with mildly unusual phenotype and complex heart disease including ventricular myocardial noncompaction. She was foun d to have a distal 5q deletion, del(5)(q35.1q35.3). Fluorescent in situ hyb ridization showed that this deletion included the locus for the cardiac spe cific homeobox gene, CSX. This suggests that some instances of ventricular myocardial noncompaction may be caused by haploinsufficiency of CSX. (C) 19 99 Wiley-Liss, Inc.