title: [Molecular and cytogenetic characterization of six 46, XX males due to translocations between the short arms of X and Y chromosomes].
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Shanghai Jiaotong University School of Medicine, Shanghai, People's Republic of China.
authors.forename: Ya
authors.initials: Y
authors.lastname: Xing
authors.forename: Xing
authors.initials: X
authors.lastname: Ji
authors.forename: Bing
authors.initials: B
authors.lastname: Xiao
authors.forename: Wen-ting
authors.initials: WT
authors.lastname: Jiang
authors.forename: Qin
authors.initials: Q
authors.lastname: Hu
authors.forename: Juan
authors.initials: J
authors.lastname: Hu
authors.forename: Ying
authors.initials: Y
authors.lastname: Cao
authors.forename: Jiong
authors.initials: J
authors.lastname: Tao
mesh_terms: D058489:46, XX Disorders of Sex Development / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D056726:Genetic Association Studies / Q000379:methods; D006801:Humans; D007621:Karyotyping / Q000379:methods; D008297:Male; D012729:Sex Chromosome Aberrations; D014178:Translocation, Genetic; D055815:Young Adult