PMID- 22875496
OWN - NLM
STAT- MEDLINE
DCOM- 20121018
LR  - 20120809
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 29
IP  - 4
DP  - 2012 Aug
TI  - [Molecular and cytogenetic characterization of six 46, XX males due to 
      translocations between the short arms of X and Y chromosomes].
PG  - 408-12
LID - 10.3760/cma.j.issn.1003-9406.2012.04.007 [doi]
AB  - OBJECTIVE: To characterize molecular and cytogenetic abnormalities in six 46, XX 
      males, and to investigate the clinical manifestations and underlying mechanisms 
      in such patients. METHODS: Clinical data of six XX male patients were collected. 
      Karyotyping, multiple polymerase chain reaction (PCR) and fluorescence in situ 
      hybridization (FISH) were utilized to detect and locate the sex determining 
      region (SRY) gene. RESULTS: PCR and FISH showed that all patients were 
      SRY-positive XX males. All patients have their SRY gene located at the tip of 
      derivative X chromosomes, which have resulted from translocation between short 
      arms of X and Y chromosomes. High resolution karyotyping at 550-750 band level 
      has revealed that the translocation breakpoints were at Xp22.33 and Yp11.2 in 
      three patients. In the remaining patients, the breakpoints were either at Xp22.32 
      and Yp11.31 or Xp22.31 and Yp11.2. The breakpoints at Xp22.32, Xp22.31 and 
      Yp11.31 were rarely reported. Genotype-phenotype correlation analysis indicated 
      that the clinical manifestations were age-specific. Four adult patients have come 
      to clinical attention due to infertility, with typical features including 
      azoospermia and testis dysgenesis, whereas poorly developed secondary sexual 
      characteristics and short stature were main complaints of adolescence patients, 
      and short stature was the sole symptom in a child patient. CONCLUSION: Combined 
      karyotyping, PCR and FISH are important for the analysis of XX males. 
      Particularly, high resolution karyotyping is valuable for the refinement of 
      chromosome breakpoints and detailed analysis of genotype-phenotype correlation.
FAU - Xing, Ya
AU  - Xing Y
AD  - Shanghai Jiaotong University School of Medicine, Shanghai, People's Republic of 
      China.
FAU - Ji, Xing
AU  - Ji X
FAU - Xiao, Bing
AU  - Xiao B
FAU - Jiang, Wen-ting
AU  - Jiang WT
FAU - Hu, Qin
AU  - Hu Q
FAU - Hu, Juan
AU  - Hu J
FAU - Cao, Ying
AU  - Cao Y
FAU - Tao, Jiong
AU  - Tao J
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  - 46, XX Disorders of Sex Development/*genetics
MH  - Adolescent
MH  - Adult
MH  - Child, Preschool
MH  - *Chromosomes, Human, X
MH  - *Chromosomes, Human, Y
MH  - Genetic Association Studies/methods
MH  - Humans
MH  - Karyotyping/methods
MH  - Male
MH  - *Sex Chromosome Aberrations
MH  - *Translocation, Genetic
MH  - Young Adult
EDAT- 2012/08/10 06:00
MHDA- 2012/10/19 06:00
CRDT- 2012/08/10 06:00
PHST- 2012/08/10 06:00 [entrez]
PHST- 2012/08/10 06:00 [pubmed]
PHST- 2012/10/19 06:00 [medline]
AID - 940629095 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2012.04.007 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Aug;29(4):408-12. doi: 
      10.3760/cma.j.issn.1003-9406.2012.04.007.