Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2930819 | International Journal of Cardiology | 2011 | 6 Pages |
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.
Keywords
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Authors
Gregory Costain, Candice K. Silversides, Christian R. Marshall, Mary Shago, Nicholas Costain, Anne S. Bassett,