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Ventricular noncompaction and distal chromosome 5q deletion |
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| Authors: | Richard M. Pauli Susan Scheib-Wixted Linda Cripe Seigo Izumo Gurbax S. Sekhon |
| Affiliation: | 1. Department of Pediatrics, University of Wisconsin-Madison, Madison, Wisconsin;2. Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin;3. Beth Israel Deaconess Hospital, Harvard University, Cambridge, Massachusetts;4. Department of Pediatrics, University of Wisconsin-Madison, Madison, Wisconsin Department of Medical Genetics, University of Wisconsin-Madison, Madison, Wisconsin Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin |
| 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. |
| Keywords: | cardiac defects cardiomyopathy chromosome deletion CSX cytogenetic abnormality fluorescent in situ hybridization |