Document Detail


22q11.2 deletion mosaicism in patients with conotruncal heart defects.
MedLine Citation:
PMID:  16575883     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: Some patients with conotruncal heart defects (CTDs) have a chromosome 22q11.2 deletion, but we do not know whether patients with CTDs who are missing the peripheral blood-cell chromosome 22q11.2 deletion are also missing the 22q11.2 deletion in myocardial cells, and whether patients with the 22q11.2 deletion can show a different 22q11.2 deletion in peripheral blood cells and myocardial cells due to a postzygotic mutation during the embryonic period. METHODS: A total of 32 Chinese pediatric nonsyndromic CTD patients (21 with tetralogy of fallot [TOF], 9 with double outlet right ventricle [DORV], 1 with pulmonary artery atresia with ventricular septal defect [PAA/VSD], and 1 with congenitally corrected transposition of the great arteries [CCTGA]), 12 females and 20 males ranging in age from 5 months to 7 years, were included in our study. We used fluorescence in situ hybridization (FISH) to find the chromosome 22q11.2 deletion in peripheral blood cells and compared genotypes of 15 short tandem repeat (STR) markers within 22q11.2 between peripheral blood cells and myocardial cells to search for genetic mosaicism of the chromosome 22q11.2 deletion. RESULTS: Three patients, 2 with TOF and 1 with DORV, were determined to have the peripheral blood cell chromosome 22q11.2 deletion. There was no STR genotypic difference observed between peripheral blood cells and myocardial cells in patients with or without the chromosome 22q11.2 deletion. CONCLUSIONS: Genetic mosaicism may not play a major role in the etiology of isolated CTDs.
Authors:
Li Jianrong; Liu Yinglong; Lv Xiaodong; Yu Cuntao; Cui Bin; Wei Bo
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Birth defects research. Part A, Clinical and molecular teratology     Volume:  76     ISSN:  1542-0752     ISO Abbreviation:  Birth Defects Res. Part A Clin. Mol. Teratol.     Publication Date:  2006 Apr 
Date Detail:
Created Date:  2006-04-25     Completed Date:  2006-06-16     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  101155107     Medline TA:  Birth Defects Res A Clin Mol Teratol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  262-5     Citation Subset:  IM    
Copyright Information:
Copyright 2006 Wiley-Liss, Inc.
Affiliation:
Cardiovascular Institute and Fuwai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China. leejianrong@126.com
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MeSH Terms
Descriptor/Qualifier:
Child
Child, Preschool
Chromosome Deletion*
Chromosome Mapping
Chromosomes, Human, Pair 22*
Female
Heart Defects, Congenital / classification,  genetics*
Heart Septal Defects, Ventricular / genetics
Heart Ventricles / abnormalities
Humans
Infant
Male
Tetralogy of Fallot / genetics

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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