| Frequency of 22q11.2 microdeletion in sporadic non-syndromic tetralogy of Fallot cases. | |
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MedLine Citation:
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PMID: 17604138 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: Tetralogy of Fallot (TOF) is a congenital conotruncal heart defect commonly found in DiGeorge (DGS) and velocardiofacial (VCFS) syndromes. The deletion of chromosome 22q11 has also been demonstrated in sporadic or familial cases of TOF. The aim of the present study was to investigate the frequency of del22q11 in patients with non-syndromic TOF seen at a tertiary Pediatric Cardiology care center. METHOD: One hundred and twenty three non-syndromic TOF patients were selected and evaluated by history, physical examination and review of medical records. Venous blood was drawn for genomic DNA extraction after informed consent 22q11 microdeletion diagnosis was conducted through a standardized SNP genotyping assay and consecutive homozygosity mapping. Phenotype-genotype correlations regarding cardiac anatomy were conducted. RESULTS: We evaluated 123 non-syndromic TOF patients for a 22q11 deletion. 105 (85.4%) patients presented pulmonary stenosis and 18 (14.6%) had pulmonary atresia. Eight patients (6.5%) were found to have a deletion. Of the deleted patients, three (37.5%) presented pulmonary atresia. We have verified a tendency towards a higher prevalence of pulmonary atresia when comparing TOF patients with and without 22q11 microdeletion. CONCLUSIONS: 22q11.2 deletion in non-syndromic TOF patients is present in approximately 6% of patients. We suggest a tendency towards a higher prevalence of pulmonary atresia in non-syndromic TOF patients with 22q11 microdeletion. Molecular genetic screening of non-syndromic TOF patient may be important for the correct care of these patients and a more specific genetic diagnostic and counseling. |
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Authors:
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L Gioli-Pereira; A C Pereira; D Bergara; S Mesquita; A A Lopes; J E Krieger |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2007-06-29 |
Journal Detail:
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Title: International journal of cardiology Volume: 126 ISSN: 1874-1754 ISO Abbreviation: Int. J. Cardiol. Publication Date: 2008 Jun |
Date Detail:
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Created Date: 2008-05-16 Completed Date: 2008-07-29 Revised Date: - |
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: 374-8 Citation Subset: IM |
Affiliation:
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Laboratory of Genetics and Molecular Cardiology and Pediatric Cardiology Division, Heart Institute (InCor), Sao Paulo University Medical School, Sao Paulo, Brazil. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Child Child, Preschool Chromosome Deletion* Chromosomes, Human, Pair 22 / genetics* Cohort Studies Female Follow-Up Studies Genetic Predisposition to Disease / epidemiology* Genotype Humans Incidence Male Probability Retrospective Studies Reverse Transcriptase Polymerase Chain Reaction Risk Assessment Severity of Illness Index Tetralogy of Fallot / epidemiology, genetics* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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