PMID- 32820526
OWN - NLM
STAT- MEDLINE
DCOM- 20201120
LR  - 20201120
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 37
IP  - 9
DP  - 2020 Sep 10
TI  - [Prenatal diagnosis of a fetus with 46,XX (SRY positive) male syndrome].
PG  - 1039-1042
LID - 10.3760/cma.j.cn511374-20190702-00323 [doi]
AB  - OBJECTIVE: To carry out genetic testing for a XXY fetus suggested by non-invasive 
      prenatal testing (NIPT). METHODS: G-banding karyotyping, fluorescence in situ 
      hybridization (FISH) and chromosomal microarray analysis (CMA) were performed on 
      amniocytes from the fetus. The genitalia of the fetus was also examined by 
      Doppler ultrasonography. The result was verified with peripheral blood samples 
      from its parents and a brother. RESULTS: The fetus was found to have a 46,XX 
      karyotype. CMA showed presence of sequences from Yp11.2 (2.635 Mb) and 
      Yp11.31p11.2 (3.706 Mb). FISH assay suggested that the SRY fragment on Yp has 
      translocated to Xpter. No karyotypic or pathogenic CNVs was detected in its 
      parents and brother. The fetus was ultimately diagnosed with 46,XX (SRY positive) 
      male syndrome. CONCLUSION: The combination of G-banding karyotyping, FISH, and 
      CMA is of great significance for attaining accurate prenatal diagnosis for this 
      fetus.
FAU - Shi, Danhua
AU  - Shi D
AD  - Ningbo Municipal Key Laboratory for Comprehensive Prevention and Treatment of 
      Birth Defects, Ningbo Women and Children's Hospital, Zhejiang 315000, China. 
      lihaibo-775@163.com.
FAU - Zhang, Yuxin
AU  - Zhang Y
FAU - Zhou, Ying
AU  - Zhou Y
FAU - Mao, Qianqian
AU  - Mao Q
FAU - Li, Haibo
AU  - Li H
LA  - chi
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  - Chromosomes, Human, Y
MH  - Female
MH  - *Fetus
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Pregnancy
MH  - *Prenatal Diagnosis
MH  - *Sex Chromosome Aberrations
EDAT- 2020/08/21 06:00
MHDA- 2020/11/21 06:00
CRDT- 2020/08/22 06:00
PHST- 2020/08/22 06:00 [entrez]
PHST- 2020/08/21 06:00 [pubmed]
PHST- 2020/11/21 06:00 [medline]
AID - 940637216 [pii]
AID - 10.3760/cma.j.cn511374-20190702-00323 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Sep 10;37(9):1039-1042. doi: 
      10.3760/cma.j.cn511374-20190702-00323.