Ventricular noncompaction and distal chromosome 5q deletion
RM Pauli, S Scheib‐Wixted, L Cripe… - American journal of …, 1999 - Wiley Online Library
RM Pauli, S Scheib‐Wixted, L Cripe, S Izumo, GS Sekhon
American journal of medical genetics, 1999•Wiley Online LibraryAbstract 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.© 1999 Wiley‐Liss, Inc.
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.© 1999 Wiley‐Liss, Inc.
Abstract
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. © 1999 Wiley‐Liss, Inc.
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