PMID- 23926008
OWN - NLM
STAT- MEDLINE
DCOM- 20140116
LR  - 20130808
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 30
IP  - 4
DP  - 2013 Aug
TI  - [Delineation of three structural Y chromosome aberrations combined molecular 
      techniques].
PG  - 420-4
LID - 10.3760/cma.j.issn.1003-9406.2013.04.009 [doi]
AB  - OBJECTIVE: To delineate the structure of Y chromosome aberrations and recombinant 
      mechanisms for three patients. METHODS: Karyotype analysis, multiplex ligation 
      dependent probe amplification (MLPA), fluorescence in situ hybridization (FISH), 
      Y chromosome sequence tagged sites (STS) analysis, human whole genome-wide SNP 
      array were used. RESULTS: The karyotypes of the three patients were 46, X, +mar. 
      As suggested by MLPA analysis, case 1 has increased copy numbers of SRY, ZFY and 
      UTY genes, case 2 had increased copies of SRY and ZFY genes, and deletion of UTY 
      gene, and case 3 had decreased copies for subtelomeric regions of X/Yp and X/Yq. 
      By STSs analysis, case 1 has retained SRY, sY84 and sY86 in the AZFa region, 
      sY1227 in the AZFb region, whilst lost sY1228 in the AZFb region and other STSs 
      in the AZFc region. Its breakpoint was thereby mapped between sY1227 and sY1228. 
      Case 2 has retained SRY and sY1200 in the centromeric region, whilst has deletion 
      of other STSs. Case 3 has retained SRY and STSs in the AZF regions. By SNP array, 
      case 1 had duplicated Yp11.31-p11.2 and deletion of Yq11.22-q11.23 (approximately 
      5.18 Mb). Case 2 had duplicated Yp11.31-p11.2 and deletion of Yq11.21-q11.23 
      (approximately 14.644 Mb). Case 3 had single copy number deletion of p22.33 and 
      q28 in the subtelomeric region of X/Yp and X/Yq. By FISH, cases 1 and 2 showed 
      two signals for SRY and DYZ3 but no signal for DYZ1 on their marker chromosomes. 
      Combining above results, the karyotypes of cases 1, 2 and 3 were determined as 
      46, X, idic(Y) (q11.23), 46, X, idic(Y) (q10) and 46, X, r(Y) (p11q12), 
      respectively. CONCLUSION: Y chromosome aberrations are variable. Combined use of 
      MLPA, STSs, FISH and SNP array is effective for revealing the breakpoints and 
      recombinant mechanisms.
FAU - Tu, Xiang-dong
AU  - Tu XD
AD  - PLA Center for Laboratory Medicine, Fuzhou General Hospital of Nanjing Military 
      Command, Fuzhou, Fujian 350025, P. R. China. tuxdmed@126.com.
FAU - Zeng, Jian
AU  - Zeng J
FAU - Cong, Xue-wen
AU  - Cong XW
FAU - Yan, Ai-zhen
AU  - Yan AZ
FAU - Huang, Wu-jian
AU  - Huang WJ
FAU - Lin, Yan-hong
AU  - Lin YH
FAU - Zheng, De-zhu
AU  - Zheng DZ
FAU - Zhang, Min
AU  - Zhang M
FAU - Wang, Zhi-hong
AU  - Wang ZH
LA  - chi
PT  - Case Reports
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
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Adult
MH  - Chromosome Banding
MH  - Chromosomes, Human, Y/*genetics
MH  - Genetic Markers/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infertility, Male/*genetics
MH  - Male
MH  - *Sex Chromosome Aberrations
EDAT- 2013/08/09 06:00
MHDA- 2014/01/17 06:00
CRDT- 2013/08/09 06:00
PHST- 2013/08/09 06:00 [entrez]
PHST- 2013/08/09 06:00 [pubmed]
PHST- 2014/01/17 06:00 [medline]
AID - 940630094 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2013.04.009 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Aug;30(4):420-4. doi: 
      10.3760/cma.j.issn.1003-9406.2013.04.009.