PMID- 28981934
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  - [Analysis a family with partial Xq deletion].
PG  - 688-690
LID - 10.3760/cma.j.issn.1003-9406.2017.05.015 [doi]
AB  - OBJECTIVE: To analyze partial deletion of the long arm of X chromosome in a 
      family and explore the mechanism underlying its phenotypes. METHODS: G-banding 
      technique was employed to analyze the karyotypes of the subjects, and 
      fluorescence in situ hybridization (FISH) was used to analyze their X chromosomes 
      with Xpter, Xqter and WCPX probes. RESULTS: The karyotypes of the proband, her 
      mother and her fetus were all 46,X,del(X)(q24). Combined FISH and karyotyping 
      analysis suggested that the proband and her fetus both carried a Xq24q27.3 
      deletion. CONCLUSION: The Xq24q27.3 deletion carried by the family is closely 
      related with premature ovarian failure but not with short stature, gonadal 
      dysgenesis and primary amenorrhea.
FAU - Jiang, Yuying
AU  - Jiang Y
AD  - Center for Prenatal Diagnosis, Women and Children's Health Hospital and Pediatric 
      Hospital of Quanzhou, Quanzhou, Fujian 362000, China. 1287194067@qq.com.
FAU - Zhuang, Jianlong
AU  - Zhuang J
FAU - Wang, Yuanbai
AU  - Wang Y
FAU - Zhuang, Qianmei
AU  - Zhuang Q
FAU - Zeng, Shuhong
AU  - Zeng S
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  - Adult
MH  - Chromosome Banding
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, X
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Primary Ovarian Insufficiency/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 - 940634140 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2017.05.015 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Oct 10;34(5):688-690. doi: 
      10.3760/cma.j.issn.1003-9406.2017.05.015.