PMID- 32820504
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  - [Xq;Yq translocation in a patient with premature ovarian insufficiency].
PG  - 942-945
LID - 10.3760/cma.j.cn511374-20191001-00505 [doi]
AB  - OBJECTIVE: To explore the genetic basis for a patient with premature ovarian 
      insufficiency. METHODS: Chromosomal G-banding and C-banding, single nucleotide 
      polymorphism array (SNP-array), fluorescence in situ hybridization (FISH) and Y 
      chromosome microdeletion assay were used for the analysis. RESULTS: With the 
      combined techniques, the patient was found to carry a Xq;Yq translocation, with a 
      karyotype of 46,X,der(X)t(X;Y)(q25;q12).ish der(X)(Tel XYp+,Tel XYq+,Yq12+). 
      CONCLUSION: Unbalanced Xq;Yq translocation probably underlay the premature 
      ovarian insufficiency in this patient.
FAU - Yang, Suting
AU  - Yang S
AD  - Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care 
      Hospital, Changsha, Hunan 410008, China. wanghua213@aliyun.com.
FAU - Zhang, Yanan
AU  - Zhang Y
FAU - Hu, Jiancheng
AU  - Hu J
FAU - Hu, Rong
AU  - Hu R
FAU - Jia, Zhengjun
AU  - Jia Z
FAU - Xi, Hui
AU  - Xi H
FAU - Wang, Hua
AU  - Wang 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, X/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - *Primary Ovarian Insufficiency/diagnosis/genetics
MH  - *Translocation, Genetic
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 - 940637194 [pii]
AID - 10.3760/cma.j.cn511374-20191001-00505 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Sep 10;37(9):942-945. doi: 
      10.3760/cma.j.cn511374-20191001-00505.