| Chromosome 22q11 deletions in patients with conotruncal heart defects. | |
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MedLine Citation:
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PMID: 16132309 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We performed this study to determine the frequency of 22q11 deletions and associated phenotypic features and abnormalities in conotruncal heart defects. Sixty-one patients with conotruncal heart defects, including tetralogy of Fallot (TOF; n = 32), pulmonary atresia/ventricular septal defect (PAVSD; n = 12), double-outlet right ventricle (DORV; n = 5), transposition of the great arteries (TGA; n = 4 ), truncus arteriosus (TA; n = 4), subpulmonary ventricular septal defect (SPVSD; n = 3), and interrupted aortic arch (IAA; n = 1), were enrolled in this study and screened for 22q11 deletions by the fluorescence in situ hybridization technique. Phenotypic features and associated abnormalities, including submucosal cleft palate, abnormal facies, square nose, nasal voice, abnormal ears, long and slender fingers, delayed development, mental retardation, delayed growth, short stature, and hypocalcemia, were examined in these patients. Nine of 61 patients (14.8%) had 22q11 deletions, including 100% of IAA, 50% of TA, 33.3% of SPVSD, 33.3% of PAVSD, and 3.1% of TOF. Deletions were not detected in DORV and TGA. In all patients with 22q11 deletions, > or =1 phenotypic features or associated abnormalities were observed. A subgroup of patients with IAA, TA, SPVSD, and PAVSD associated with phenotypic features or abnormalities warrants evaluation for the presence of 22q11 deletions. |
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Authors:
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A Khositseth; C Tocharoentanaphol; P Khowsathit; N Ruangdaraganon |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Pediatric cardiology Volume: 26 ISSN: 0172-0643 ISO Abbreviation: Pediatr Cardiol Publication Date: 2005 Sep-Oct |
Date Detail:
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Created Date: 2005-12-26 Completed Date: 2006-03-28 Revised Date: 2008-02-20 |
Medline Journal Info:
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Nlm Unique ID: 8003849 Medline TA: Pediatr Cardiol Country: United States |
Other Details:
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Languages: eng Pagination: 570-3 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand. alaks@diamond.mahidol.ac.th |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple Aortic Coarctation / genetics Child Child, Preschool Chromosome Deletion* Chromosomes, Human, Pair 22* DiGeorge Syndrome / genetics Double Outlet Right Ventricle / genetics Female Heart Defects, Congenital / genetics* Heart Septal Defects, Ventricular / genetics Humans In Situ Hybridization, Fluorescence Infant Infant, Newborn Male Phenotype Pulmonary Atresia / genetics Tetralogy of Fallot / genetics Transposition of Great Vessels / genetics Truncus Arteriosus, Persistent / genetics |
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