PMID- 28981940
OWN - NLM
STAT- MEDLINE
DCOM- 20180313
LR  - 20180313
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 34
IP  - 5
DP  - 2017 Oct 10
TI  - [Prenatal genetic analysis of a fetus with Wolf-Hirschhorn syndrome and Edward 
      syndrome].
PG  - 714-717
LID - 10.3760/cma.j.issn.1003-9406.2017.05.021 [doi]
AB  - OBJECTIVE: To screen for genomic copy number variants (CNVs) in a fetus with 
      cardiac abnormalities and intrauterine growth retardation through single 
      nucleotide polymorphism microarray (SNP array) and karyotyping analysis. METHODS: 
      The fetus and its parents were subjected to conventional G banding and SNP-array 
      analysis. The results were confirmed with fluorescence in situ hybridization 
      (FISH). RESULTS: G-banding analysis showed that the fetus has a karyotype of 
      47,XX,+mar. The father has a karyotype of 46,XY,t(4;18) (p15.2q11.2), while the 
      mother showed a normal karyotype. SNP-array detected two microduplications at 
      18p11.32q11.2 (20.5 Mb) and 4p16.3p15.2 (24.7 Mb) in the fetus. The supernumerary 
      marker chromosome carried by the fetus has derived from the balanced 
      translocation carried by its father. The result was confirmed by FISH. 
      CONCLUSION: Based on the two microduplications, the fetus was diagnosed as 
      Wolf-Hirschhorn syndrome in conjunction with Edward syndrome. Verification of the 
      origin of the supernumerary marker chromosome by SNP-array has provided a basis 
      for prenatal genetic diagnosis.
FAU - Shen, Xueping
AU  - Shen X
AD  - Huzhou Women and Children's Health Care Hospital, Huzhou, Zhejiang 313000, China. 
      hpy6481@163.com.
FAU - He, Pingya
AU  - He P
FAU - Fang, Rong
AU  - Fang R
FAU - Yao, Juan
AU  - Yao J
FAU - Li, Wenwen
AU  - Li W
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
SB  - IM
MH  - Chromosome Banding
MH  - Female
MH  - Genetic Testing
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Polymorphism, Single Nucleotide
MH  - Pregnancy
MH  - *Prenatal Diagnosis
MH  - Trisomy 18 Syndrome/*genetics
MH  - Wolf-Hirschhorn Syndrome/*genetics
EDAT- 2017/10/06 06:00
MHDA- 2018/03/14 06:00
CRDT- 2017/10/06 06:00
PHST- 2017/10/06 06:00 [entrez]
PHST- 2017/10/06 06:00 [pubmed]
PHST- 2018/03/14 06:00 [medline]
AID - 940634146 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2017.05.021 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Oct 10;34(5):714-717. doi: 
      10.3760/cma.j.issn.1003-9406.2017.05.021.