title: Crypt Y chromosome fragment resulting from an X;Y translocation in a patient with premature ovarian failure.
abstract: OBJECTIVE
  To identify a cryptic Y chromosome fragment that resulted from a X;Y translocation in a patient with premature ovarian failure (POF) and analyze the karyotype-phenotype correlation.
  
  
  METHODS
  Case report.
  
  
  METHODS
  A university-based reproductive medicine center.
  
  
  METHODS
  A 33-year-old woman with POF.
  
  
  METHODS
  Karyotyping analysis, comparative genomic hybridization, fluorescence in situ hybridization, and polymerase chain reaction (PCR) analysis for the patient.
  
  
  METHODS
  Karyotype determination of the patient.
  
  
  RESULTS
  The patient was suspected to carry an abnormal X chromosome by traditional cytogenetic analysis. A Y chromosome hybridization signal was found in the patient's genome by comparative genomic hybridization analysis. The fluorescence in situ hybridization result showed that the Y chromosome material resulted from a translocation between Xq and Yq. Using the specific sequence-tagged sites, the breakpoints on the X and Y chromosomes were located at Xq26.3 and Yq11.223, respectively. Combined with chromosome G banding and C banding, the karyotype of the patient was determined as 46,X,der(X)t(X;Y) (q26.3;q11.223).
  
  
  CONCLUSIONS
  The advanced molecular cytogenetic techniques are helpful to detect cryptic chromosome aberrancies in patients with POF. This rare case supports that Xq26-q28 is the critical region of POF, and is helpful to analyze the risk of gonadoblastoma in patients with POF with Y chromosomal material.
authors.affiliation: Institute of Reproduction and Stem Cell Engineering, Reproductive and Genetic Hospital of Citic Xiangya, Central South University, Changsha, Peoples Republic of China.
authors.forename: De-Hua
authors.initials: DH
authors.lastname: Cheng
authors.forename: Yue-Qiu
authors.initials: YQ
authors.lastname: Tan
authors.forename: Yu-Fen
authors.initials: YF
authors.lastname: Di
authors.forename: Lu-Yun
authors.initials: LY
authors.lastname: Li
authors.forename: Guang-Xiu
authors.initials: GX
authors.lastname: Lu
mesh_terms: D000328:Adult; D041321:Chromosomes, Human, X / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D053938:DNA Fragmentation; D005260:Female; D006801:Humans; D016649:Primary Ovarian Insufficiency / Q000175:diagnosis* / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*