| 13q13.1-q13.2 deletion in tetralogy of Fallot: clinical report and a literature review. | |
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MedLine Citation:
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PMID: 20598760 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Gregory Costain; Candice K Silversides; Christian R Marshall; Mary Shago; Nicholas Costain; Anne S Bassett |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review Date: 2010-07-03 |
Journal Detail:
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Title: International journal of cardiology Volume: 146 ISSN: 1874-1754 ISO Abbreviation: Int. J. Cardiol. Publication Date: 2011 Jan |
Date Detail:
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Created Date: 2011-01-17 Completed Date: 2011-05-03 Revised Date: 2012-03-12 |
Medline Journal Info:
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Nlm Unique ID: 8200291 Medline TA: Int J Cardiol Country: Netherlands |
Other Details:
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Languages: eng Pagination: 134-9 Citation Subset: IM |
Copyright Information:
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Copyright © 2010 Elsevier Ireland Ltd. All rights reserved. |
Affiliation:
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Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Chromosome Deletion* Chromosomes, Human, Pair 13* Female Humans Tetralogy of Fallot / genetics* Young Adult |
| Grant Support | |
ID/Acronym/Agency:
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107520//Canadian Institutes of Health Research; MOP-79518//Canadian Institutes of Health Research; MOP-89066//Canadian Institutes of Health Research |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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