Article ID Journal Published Year Pages File Type
2930819 International Journal of Cardiology 2011 6 Pages PDF
Abstract

Recent advances in microarray technology are helping to identify more genetic anomalies associated with tetralogy of Fallot and other congenital heart defects. We report on a 24-year-old woman with a syndromic form of tetralogy of Fallot who was found to have a novel de novo deletion of the proximal long arm of chromosome 13. History of developmental delay and learning difficulties, mild dysmorphic facial features, and anal atresia prompted genetic investigations. A review of the literature on deletions that overlap this region showed that several were associated with major congenital heart defects. The results suggest that the 13q13.1–q13.2 region may harbour a gene or genes important in cardiac development.

Related Topics
Health Sciences Medicine and Dentistry Cardiology and Cardiovascular Medicine
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