PMID- 21462121
OWN - NLM
STAT- MEDLINE
DCOM- 20110531
LR  - 20110404
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 28
IP  - 2
DP  - 2011 Apr
TI  - [Detection of cryptic copy number variations in a fetus with congenital heart 
      disease by array-based comparative genomic hybridization].
PG  - 133-6
LID - 10.3760/cma.j.issn.1003-9406.2011.02.003 [doi]
AB  - OBJECTIVE: To detect the copy number variation (CNV) of a fetus with interrupted 
      aortic arch and ventricular septal defect, in order to explore the underlying 
      genetic causes of the congenital malformation, and investigate the feasibility of 
      array-based comparative genomic hybridization (array-CGH) in molecular 
      cytogenetic diagnosis. METHODS: The whole genome of the fetus with de novo 
      apparently balanced translocations [46,XX,t(7;9)(q12;q21)] diagnosed by G-banding 
      was scanned and analyzed by array-CGH, and the copy number variation was 
      confirmed by fluorescence in situ hybridization (FISH). RESULTS: A pathologic 
      submicroscopic CNV [del(22) (q11.2) (17 370 128-19 790 009, -2.42 Mb)] was 
      identified and mapped by array-CGH. FISH test confirmed the microdeletion 
      detected by array-CGH. CONCLUSION: The cryptic 22q11.2 deletion might be the 
      reason leading to the congenital malformation of the fetus. This study provides 
      evidence that apparently balanced translocations classified by conventional 
      cytogenetic techniques may host additional submicroscopic CNVs which are not 
      located at the breakpoints. Due to the high-resolution, high-throughput and 
      high-accuracy, array-CGH is considered to be a powerful tool for submicroscopic 
      CNVs detection.
FAU - HU, Ping
AU  - HU P
AD  - Center for Prenatal Diagnosis, Nanjing Women and Children Health Hospital 
      Affiliated to Nanjing Medical University, Nanjing, Jiangsu, 210004 P. R. China. 
      njxzf@126.com.
FAU - WANG, Yan
AU  - WANG Y
FAU - JI, Xiu-qing
AU  - JI XQ
FAU - LIN, Ying
AU  - LIN Y
FAU - Li, Li
AU  - Li L
FAU - ZHOU, Xiao-yan
AU  - ZHOU XY
FAU - CHEN, Jian
AU  - CHEN J
FAU - MA, Ding-yuan
AU  - MA DY
FAU - CAO, Li
AU  - CAO L
FAU - Xu, Zhengfeng
AU  - Xu Z
LA  - chi
PT  - Case Reports
PT  - English Abstract
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - China
TA  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi
JT  - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese 
      journal of medical genetics
JID - 9425197
SB  - IM
MH  - Abnormalities, Multiple/diagnosis/genetics
MH  - Adult
MH  - Chromosome Deletion
MH  - Comparative Genomic Hybridization/*methods
MH  - *DNA Copy Number Variations
MH  - Female
MH  - Fetal Diseases/diagnosis/*genetics
MH  - Heart Defects, Congenital/diagnosis/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Pregnancy
EDAT- 2011/04/05 06:00
MHDA- 2011/06/01 06:00
CRDT- 2011/04/05 06:00
PHST- 2011/04/05 06:00 [entrez]
PHST- 2011/04/05 06:00 [pubmed]
PHST- 2011/06/01 06:00 [medline]
AID - 940628026 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2011.02.003 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Apr;28(2):133-6. doi: 
      10.3760/cma.j.issn.1003-9406.2011.02.003.