PMID- 16575883
OWN - NLM
STAT- MEDLINE
DCOM- 20060616
LR  - 20061115
IS  - 1542-0752 (Print)
IS  - 1542-0752 (Linking)
VI  - 76
IP  - 4
DP  - 2006 Apr
TI  - 22q11.2 deletion mosaicism in patients with conotruncal heart defects.
PG  - 262-5
AB  - 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.
CI  - Copyright 2006 Wiley-Liss, Inc.
FAU - Jianrong, Li
AU  - Jianrong L
AD  - Cardiovascular Institute and Fuwai Hospital, Chinese Academy of Medical Sciences 
      and Peking Union Medical College, Beijing, China. leejianrong@126.com
FAU - Yinglong, Liu
AU  - Yinglong L
FAU - Xiaodong, Lv
AU  - Xiaodong L
FAU - Cuntao, Yu
AU  - Cuntao Y
FAU - Bin, Cui
AU  - Bin C
FAU - Bo, Wei
AU  - Bo W
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Birth Defects Res A Clin Mol Teratol
JT  - Birth defects research. Part A, Clinical and molecular teratology
JID - 101155107
SB  - IM
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Deletion
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 22
MH  - Female
MH  - Heart Defects, Congenital/classification/*genetics
MH  - Heart Septal Defects, Ventricular/genetics
MH  - Heart Ventricles/abnormalities
MH  - Humans
MH  - Infant
MH  - Male
MH  - Tetralogy of Fallot/genetics
EDAT- 2006/04/01 09:00
MHDA- 2006/06/17 09:00
CRDT- 2006/04/01 09:00
PHST- 2006/04/01 09:00 [pubmed]
PHST- 2006/06/17 09:00 [medline]
PHST- 2006/04/01 09:00 [entrez]
AID - 10.1002/bdra.20246 [doi]
PST - ppublish
SO  - Birth Defects Res A Clin Mol Teratol. 2006 Apr;76(4):262-5. doi: 
      10.1002/bdra.20246.