PMID- 24510566
OWN - NLM
STAT- MEDLINE
DCOM- 20140327
LR  - 20140210
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 31
IP  - 1
DP  - 2014 Feb
TI  - [Cytogenetic and molecular study of a patient with severe oligozoospermia and 
      asthenozoospermia].
PG  - 65-8
LID - 10.3760/cma.j.issn.1003-9406.2014.01.015 [doi]
AB  - OBJECTIVE: To explore genetic etiologies of a patient with severe oligozoospermia 
      and asthenozoospermia. METHODS: G-banded karyotyping and fluorescence in situ 
      hybridization (FISH) were used to characterize the origin and structure of the 
      abnormal chromosome discovered in this patient. Multiplex polymerase chain 
      reaction (PCR) was used to detect microdeletion of azoospermia factor (AZF). 
      RESULTS: G-banding revealed a karyotype of 45,X,der(15) (?::p11.2--> qter)dn for 
      the patient. Dual-color FISH confirmed that SRY gene was present in a segment 
      attached to the short arm of chromosome 15. Sex chromosome mosaicism and 
      numerical abnormality therefore were both present. Dual-color FISH revealed 
      karyotype of nuc ish(DXZ1x 1, SRYx 1)[390/400]/(DXZ1x 2, SRYx 1) [10/400]. 
      Four-color FISH showed that the abnormal chromosome 15 has derived from a 
      pseudodicentric (Y;15) translocation, and that the breakpoint on Y chromosome was 
      located at Yq12. G-banding and FISH results confirmed that the karyotype was 
      45,X,der(15)(?::p11.2--> qter)dn.ish psu dic(15;Y)(p11.2;q12)(D15Z1+ , SNRPN+ , 
      PML+ ; SRY+ , DYZ3+ , DYZ1+ ). Microdeletion of AZFc combined with sY254 deletion 
      was detected by multiplex PCR. CONCLUSION: Cytogenetic and molecular genetic 
      analysis of the patient has indicated meiotic disturbances with spermatogenetic 
      arrest resulting from a pseudodicentric chromosome derived from Y;15 
      translocation and spermatogenesis dysfunction resulting from partial deletion of 
      AZFc region.
FAU - Lin, Shaobin
AU  - Lin S
AD  - Fetal Medicine Center, the First Affiliated Hospital, Zhongshan School of 
      Medicine, Sun Yat-sen University, Guangzhou, Guangdong 510080, P.R.China. 
      chenbaojiang@126.com.
FAU - Xie, Yingjun
AU  - Xie Y
FAU - Wu, Jianzhu
AU  - Wu J
FAU - Fang, Qun
AU  - Fang Q
FAU - Chen, Zheng
AU  - Chen Z
FAU - Chen, Baojiang
AU  - Chen B
LA  - chi
PT  - Case Reports
PT  - English Abstract
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  - Asthenozoospermia/*diagnosis/*genetics
MH  - Chromosomes, Human, Y
MH  - Cytogenetics/methods
MH  - Humans
MH  - Male
MH  - Oligospermia/*diagnosis/*genetics
MH  - Sex Chromosome Aberrations
MH  - Translocation, Genetic
EDAT- 2014/02/11 06:00
MHDA- 2014/03/29 06:00
CRDT- 2014/02/11 06:00
PHST- 2014/02/11 06:00 [entrez]
PHST- 2014/02/11 06:00 [pubmed]
PHST- 2014/03/29 06:00 [medline]
AID - 940631015 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2014.01.015 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Feb;31(1):65-8. doi: 
      10.3760/cma.j.issn.1003-9406.2014.01.015.