| 22q11 deletions in isolated and syndromic patients with tetralogy of Fallot. | |
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MedLine Citation:
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PMID: 7759065 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Tetralogy of Fallot (TF) is a congenital conotruncal heart defect commonly found in DiGeorge (DGS) and velo-cardio-facial (VCFS) syndromes. The deletion of chromosome 22q11 (del22q11) is a well established cause of DGS and VCFS, and it has been demonstrated also in sporadic or familial cases of TF. In order to investigate the prevalence of del22q11 in patients with TF, we analyzed the DNA of 137 consecutive patients with syndromic and isolated TF, using the HD7k probe, which detects hemizygosity for the D22S134 locus. Del22q11 has been detected in 11/26 (42%) syndromic patients. Evidence for hemizygosity was obtained in all patients with DGS and in 8/15 patients with VCFS. None of the 107 patients with isolated TF had del22q11. Our experience suggests that children with TF and del22q11 always present major or minor extracardiac anomalies. These features, including subtle facial dysmorphisms, should be checked routinely in patients with TF and other conotruncal heart defects. |
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Authors:
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F Amati; A Mari; M C Digilio; R Mingarelli; B Marino; A Giannotti; G Novelli; B Dallapiccola |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Human genetics Volume: 95 ISSN: 0340-6717 ISO Abbreviation: Hum. Genet. Publication Date: 1995 May |
Date Detail:
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Created Date: 1995-06-27 Completed Date: 1995-06-27 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 7613873 Medline TA: Hum Genet Country: GERMANY |
Other Details:
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Languages: eng Pagination: 479-82 Citation Subset: IM |
Affiliation:
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Department of Public Health and Cell Biology, University of Tor Vergata, Rome, Italy. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Blotting, Southern Child Child, Preschool Chromosome Aberrations / genetics* Chromosome Deletion* Chromosomes, Human, Pair 22* DNA / analysis DNA Probes Female Humans In Situ Hybridization, Fluorescence Infant Infant, Newborn Male Prevalence Syndrome Tetralogy of Fallot / genetics* |
| Chemical | |
Reg. No./Substance:
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0/DNA Probes; 9007-49-2/DNA |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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