PMID- 30512166
OWN - NLM
STAT- MEDLINE
DCOM- 20190701
LR  - 20190701
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 35
IP  - 6
DP  - 2018 Dec 10
TI  - [Genetic study of a fetus with a de novo Xp22.33;Yp11.2 translocation].
PG  - 868-871
LID - 10.3760/cma.j.issn.1003-9406.2018.06.022 [doi]
AB  - OBJECTIVE: To delineate cytogenetic and molecular abnormalities of a fetus 
      carrying a de novo 46,X,der(X),t(X;Y)(p22.3;p11.2). METHODS: G-banded karyotyping 
      and next-generation sequencing (NGS) were used to analyze the fetus, his father 
      and sister. Single nucleotide polymorphism-based arrays (SNP-array), multiple PCR 
      and fluorescence in situ hybridization (FISH) were utilized to verify the result. 
      RESULTS: G-banded karyotyping at 320 bands showed that the fetus had a normal 
      karyotype, while NGS has identified a 3.58 Mb microdeletion at Xp22.33 and a Y 
      chromosomal segment of about 10 Mb at Yp11.32p11.2. With the sequencing results, 
      high-resolution karyotyping at 550-750 bands level has determined the fetus to be 
      46,X,der(X)t(X;Y)(p22.3;p11.2). The result was confirmed by PCR amplification of 
      the SRY gene, FISH and SNP-array assays. The karyotypes of his father and sister 
      were both normal. His sister also showed no amplification of the SRY gene, and 
      her NGS results were normal too, suggesting that the karyotype of the fetus was 
      de novo. CONCLUSION: Combined karyotyping, NGS, SNP-array, PCR and FISH assay can 
      facilitate diagnosis of XX disorder of sex development.
FAU - Chen, Xuejiao
AU  - Chen X
AD  - Central Laboratory, Taizhou Hospital, Taizhou, Zhejiang 317000, China. 
      shiww@enzemed.com.
FAU - Dai, Meizhen
AU  - Dai M
FAU - Zhu, Ying
AU  - Zhu Y
FAU - He, Zhehang
AU  - He Z
FAU - Zhang, Yang
AU  - Zhang Y
FAU - Pan, Yihong
AU  - Pan Y
FAU - Shi, Weiwu
AU  - Shi W
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, X/*genetics
MH  - Disorders of Sex Development/*genetics
MH  - Female
MH  - *Fetus
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Single Nucleotide
MH  - *Translocation, Genetic
EDAT- 2018/12/05 06:00
MHDA- 2019/07/02 06:00
CRDT- 2018/12/05 06:00
PHST- 2018/12/05 06:00 [entrez]
PHST- 2018/12/05 06:00 [pubmed]
PHST- 2019/07/02 06:00 [medline]
AID - 940635181 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2018.06.022 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Dec 10;35(6):868-871. doi: 
      10.3760/cma.j.issn.1003-9406.2018.06.022.