1. Ventricular noncompaction and distal chromosome 5q deletion
- Author
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Richard M. Pauli, Seigo Izumo, Susan Scheib-Wixted, Gurbax S. Sekhon, and Linda Cripe
- Subjects
Heart Defects, Congenital ,medicine.medical_specialty ,Pathology ,Heart disease ,Heart Ventricles ,Cardiomyopathy ,Locus (genetics) ,In situ hybridization ,Biology ,Genetic determinism ,Cytogenetics ,Internal medicine ,medicine ,Humans ,Child ,Gene ,Genetics (clinical) ,In Situ Hybridization, Fluorescence ,Homeodomain Proteins ,medicine.disease ,Phenotype ,Endocrinology ,Homeobox Protein Nkx-2.5 ,Chromosomes, Human, Pair 5 ,Female ,Haploinsufficiency ,Gene Deletion ,Transcription Factors - 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.
- Published
- 1999