PMID- 21473936
OWN - NLM
STAT- MEDLINE
DCOM- 20111031
LR  - 20110711
IS  - 1878-0849 (Electronic)
IS  - 1769-7212 (Linking)
VI  - 54
IP  - 4
DP  - 2011 Jul-Aug
TI  - 22q11.2 microduplication in a family with recurrent fetal congenital heart 
      disease.
PG  - e433-6
LID - 10.1016/j.ejmg.2011.03.009 [doi]
AB  - People carrying a 22q11.2 microduplication display a phenotype varying from 
      normal to severely affected. We report a phenotypically normal female presented 
      with a fetus having a severe congenital heart defect with ventricular septal 
      defect, tricuspid atresia, patent ductus arteriosus and interrupted aortic arch. 
      The pregnant woman had a history of overall three consecutive aberrant 
      pregnancies with tetralogy of Fallot. Standard G-banding karyotype analysis of 
      the parents and the actual pregnancy were normal, while array comparative genomic 
      hybridization (arrayCGH) analysis revealed a 22q11.2 microduplication within the 
      fetus' genome. Fluorescence in situ hybridization (FISH) and short tandem repeat 
      polymorphism (STRP) tests indicated the affected fetus inherited the interstitial 
      22q11.2 microduplication from the mother. High-resolution oligonucleotide 
      microarray analysis showed this microduplication is located in the common 3 Mb 
      22q11.2 deletion region between positions 17.298 Mb and 20.246 Mb with a length 
      of 2.948 Mb. This report demonstrates the remarkable intrafamilial variability of 
      a 22q11.2 microduplication phenotype. The 22q11.2 microduplication carried by one 
      of the healthy parents has most likely contributed to the recurrent fetal heart 
      defects.
CI  - Copyright (c) 2011 Elsevier Masson SAS. All rights reserved.
FAU - Hu, Ping
AU  - Hu P
AD  - Center of Prenatal Diagnosis, Nanjing Maternal and Child Health Hospital of 
      Nanjing Medical University, Nanjing, PR China.
FAU - Ji, Xiuqing
AU  - Ji X
FAU - Yang, Chi
AU  - Yang C
FAU - Zhang, Jingjing
AU  - Zhang J
FAU - Lin, Ying
AU  - Lin Y
FAU - Cheng, Jian
AU  - Cheng J
FAU - Ma, Dingyuan
AU  - Ma D
FAU - Cao, Li
AU  - Cao L
FAU - Yi, Long
AU  - Yi L
FAU - Xu, Zhengfeng
AU  - Xu Z
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20110405
PL  - Netherlands
TA  - Eur J Med Genet
JT  - European journal of medical genetics
JID - 101247089
RN  - Chromosome 22, trisomy
SB  - IM
MH  - Adult
MH  - Chromosome Banding
MH  - Chromosomes, Human, Pair 22/genetics
MH  - Comparative Genomic Hybridization
MH  - Female
MH  - Fetus
MH  - Genotype
MH  - Heart Defects, Congenital/*genetics/pathology
MH  - Humans
MH  - Phenotype
MH  - Pregnancy
MH  - Trisomy/*genetics/pathology
EDAT- 2011/04/09 06:00
MHDA- 2011/11/01 06:00
CRDT- 2011/04/09 06:00
PHST- 2010/09/06 00:00 [received]
PHST- 2011/03/20 00:00 [accepted]
PHST- 2011/04/09 06:00 [entrez]
PHST- 2011/04/09 06:00 [pubmed]
PHST- 2011/11/01 06:00 [medline]
AID - S1769-7212(11)00042-5 [pii]
AID - 10.1016/j.ejmg.2011.03.009 [doi]
PST - ppublish
SO  - Eur J Med Genet. 2011 Jul-Aug;54(4):e433-6. doi: 10.1016/j.ejmg.2011.03.009. Epub 
      2011 Apr 5.