PMID- 32820525
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 two fetuses with de novo 46,X,psu dic(Y)/45,X mosaicism].
PG  - 1036-1038
LID - 10.3760/cma.j.cn511374-20191015-00527 [doi]
AB  - OBJECTIVE: To carry out prenatal diagnosis for a fetus with increased nuchal 
      translucency (NT) and another fetus with non-invasive prenatal testing (NIPT) 
      suggested reduced sex chromosomes by cytogenetic and molecular techniques. 
      METHODS: Chromosomal karyotyping, single nucleotide polymorphism array 
      (SNP-array) and fluorescence in situ hybridization (FISH) were applied for the 
      diagnoses. Peripheral blood samples were also taken from their parents for 
      chromosomal karyotyping and SNP-array analysis. RESULTS: Both fetuses showed a 
      46,X,+mar/45,X karyotype. SNP-array has detected a 22.0 Mb duplication at 
      Yp11.31q11.223 and a 3.9 Mb microdeletion at Yq11.223q11.23 in fetus 1, and a 
      16.9 Mb duplication at Yp11.31q11.221 and a 8.1 Mb deletion at Yq11.222q11.23 in 
      fetus 2. The results were confirmed by FISH. The parents of both fetuses were 
      normal by chromosomal karyotyping and SNP-array. CONCLUSION: Combined use of 
      various techniques can enable accurate prenatal diagnosis and genetic counseling.
FAU - Chen, Jiayan
AU  - Chen J
AD  - Center of Prenatal Diagnosis, Xiamen Maternity and Child Health Care Hospital, 
      Xiamen, Fujian 361003, China. gshee@163.com.
FAU - Chen, Xiaolu
AU  - Chen X
FAU - Cai, Meijiao
AU  - Cai M
FAU - Zhang, Jian
AU  - Zhang J
FAU - Ge, Yunsheng
AU  - Ge Y
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  - Chromosomes, Human, Y
MH  - Female
MH  - Fetus
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - *Mosaicism
MH  - Polymorphism, Single Nucleotide
MH  - Pregnancy
MH  - *Prenatal Diagnosis
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 - 940637215 [pii]
AID - 10.3760/cma.j.cn511374-20191015-00527 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Sep 10;37(9):1036-1038. doi: 
      10.3760/cma.j.cn511374-20191015-00527.