PMID- 28397229
OWN - NLM
STAT- MEDLINE
DCOM- 20170914
LR  - 20170914
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 34
IP  - 2
DP  - 2017 Apr 10
TI  - [Prenatal diagnosis of a rare case of 7q11.23 duplication syndrome].
PG  - 244-246
LID - 10.3760/cma.j.issn.1003-9406.2017.02.021 [doi]
AB  - OBJECTIVE: To explore the application of combined techniques for the prenatal 
      diagnosis of a case with 7q11.23 duplication. METHODS: Amniocentesis was 
      performed in the second trimester for a mother with a high risk suggested by 
      serological prenatal screening. G-banded chromosomal analysis was performed on 
      cultured amniocytes and peripheral blood samples from both parents. DNA from 
      amniotic fluid sample was isolated for a BACs-on-Beads (BoBs) assay. To define 
      the range of duplication, copy number variation was determined with single 
      nucleotide polymorphism array (SNP array, Affymetrix CytoScan 750K) and 
      fluorescence in situ hybridization (FISH) analysis. RESULTS: Chromosomal analysis 
      suggested that the fetus and both parents all had a normal karyotype, while a 
      duplication of 7q11.23 was detected by the BoBs assay. SNP array revealed a 1.5 
      Mb duplication in chromosome 7q11.23, which was confirmed by FISH. CONCLUSION: 
      Combined prenatal BoBs, SNP array and FISH has enabled effective diagnose of a 
      case with 7q11.23 syndrome.
FAU - Ma, Guangjuan
AU  - Ma G
AD  - Center for Prenatal Diagnosis, Maternal and Child's Health Hospital of Xinjiang 
      Ughur Autonomous Region, Urumuqi, Xinjiang 830000, China. 1391158160@qq.com.
FAU - Jiang, Yulin
AU  - Jiang Y
FAU - Yu, Zhen
AU  - Yu Z
FAU - Dai, Wencheng
AU  - Dai W
FAU - Liu, Ning
AU  - Liu N
FAU - Li, Huijun
AU  - Li H
FAU - Mijiti, Gulinazi
AU  - Mijiti G
LA  - chi
PT  - Case Reports
PT  - Journal Article
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
RN  - Chromosome 7, trisomy 7p
SB  - IM
MH  - Adult
MH  - Chromosome Banding
MH  - Chromosome Disorders/diagnosis/*embryology/*genetics
MH  - Chromosomes, Human, Pair 7/genetics
MH  - Female
MH  - Fetal Diseases/diagnosis/*genetics
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Pregnancy
MH  - Prenatal Diagnosis
MH  - Trisomy/*genetics
EDAT- 2017/04/12 06:00
MHDA- 2017/09/15 06:00
CRDT- 2017/04/12 06:00
PHST- 2017/04/12 06:00 [entrez]
PHST- 2017/04/12 06:00 [pubmed]
PHST- 2017/09/15 06:00 [medline]
AID - 940634052 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2017.02.021 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Apr 10;34(2):244-246. doi: 
      10.3760/cma.j.issn.1003-9406.2017.02.021.