PMID- 24711030
OWN - NLM
STAT- MEDLINE
DCOM- 20140605
LR  - 20140408
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 31
IP  - 2
DP  - 2014 Apr
TI  - [Investigation of a rare supernumerary i(Y)(q10) chromosome in a patient with 
      premature ovarian failure].
PG  - 192-5
LID - 10.3760/cma.j.issn.1003-9406.2014.02.014 [doi]
AB  - OBJECTIVE: To investigate the origin of a rare supernumerary chromosome in a 
      patient with premature ovarian failure (POF), and to explore the relationship 
      between this abnormal karyotype and pathogenesis of POF. METHODS: GTG banding 
      karyotyping, Q-banding and fluorescence in situ hybridization (FISH) were 
      employed for the investigation. RESULTS: The extra chromosome was identified as 
      i(Y)(q10) by FISH with a panel of sex chromosome probes. The patient's karyotype 
      was described as: 47,XX,+ ish mar i(Y)(q10) (DXZ1-, SRY-, DYZ3+, DYZ1++, wcpY+). 
      CONCLUSION: Co-occurrence of the supernumerary i(Y)(q10) with a female kryotype 
      is extremely rare. This supernumerary chromosome may cause failure of X 
      chromosomes synapsis during pachytene of meiosis I, which may trigger apoptosis 
      of many oocytes and result in POF of the patient. Q-banding, FISH and multiple 
      probes have been critical for accurate diagnosis of the unknown chromosome.
FAU - Zeng, Huan
AU  - Zeng H
AD  - Cytogenetic Laboratory of Prenatal Diagnosis Center, Maternal and Child 
      Healthcare Hospital of Xiamen, Xiamen, Fujian 361003, P. R. China. 
      zhou_yulin@126.com.
FAU - Kong, Hui
AU  - Kong H
FAU - Xiao, Yunshan
AU  - Xiao Y
FAU - Huang, Tingting
AU  - Huang T
FAU - Wu, Huinan
AU  - Wu H
FAU - Shen, Yanyan
AU  - Shen Y
FAU - Zhou, Yulin
AU  - Zhou Y
LA  - chi
PT  - English Abstract
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
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 Aberrations
MH  - *Chromosomes, Human, Pair 10
MH  - *Chromosomes, Human, Y
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotype
MH  - Primary Ovarian Insufficiency/*genetics
EDAT- 2014/04/09 06:00
MHDA- 2014/06/06 06:00
CRDT- 2014/04/09 06:00
PHST- 2014/04/09 06:00 [entrez]
PHST- 2014/04/09 06:00 [pubmed]
PHST- 2014/06/06 06:00 [medline]
AID - 940631041 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2014.02.014 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Apr;31(2):192-5. doi: 
      10.3760/cma.j.issn.1003-9406.2014.02.014.