title: A comparative genomic hybridization study in a 46,XX male.
abstract: OBJECTIVE
  To identify Y chromosome material in an azoospermic male with an XX karyotype.
  
  
  METHODS
  Case report.
  
  
  METHODS
  Faculty of medicine and Centro de Patologia Celular (CPC) medical center.
  
  
  METHODS
  A 33-year-old man with infertility.
  
  
  METHODS
  G-banding, fluorescence in situ hybridization (FISH), polymerase chain reaction (PCR), and comparative genomic hybridization (CGH).
  
  
  METHODS
  FISH for X and Y chromosomes, PCR for the SRYgene and amelogenin gene in the Xp (AMGX) and (AMGY), and losses or gains with CGH.
  
  
  RESULTS
  FISH analysis using X and Y chromosome-specific probes showed an X chromosome containing Y chromosome sequences on the top of the short arm; this Y chromosome region was not visible by conventional cytogenetic analysis. PCR amplification of DNA showed the presence of the sex-determining region of the Y chromosome (SRY) and the amelogenin gene in the pseudoautosomal boundary of the X chromosome (AMGX). CGH confirmed the presence of the chromosome region Yp11.2-pter and detected the presence of the two otherwise normal X chromosomes.
  
  
  CONCLUSIONS
  The two Xpter (XPAR1) pseudoautosomal regions present in this XX male suggest the need to reevaluate XX males using CGH and PCR to characterize the clinical variability in XX males due to genes other than those located on the Y chromosome.
authors.affiliation: Unitat de Biologia, Departament de Biologia Cellular, Fisiologia i Immunologia, Facultat de Medicina, Universitat Autònoma de Barcelona, Barcelona, Spain.
authors.forename: M Angels
authors.initials: MA
authors.lastname: Rigola
authors.forename: Marta
authors.initials: M
authors.lastname: Carrera
authors.forename: Isabel
authors.initials: I
authors.lastname: Ribas
authors.forename: Josep
authors.initials: J
authors.lastname: Egozcue
authors.forename: Rosa
authors.initials: R
authors.lastname: Miró
authors.forename: Carme
authors.initials: C
authors.lastname: Fuster
mesh_terms: D000328:Adult; D053523:Amelogenin; D002874:Chromosome Mapping; D003746:Dental Enamel Proteins / Q000235:genetics; D024282:Genes, sry / Q000235:genetics; D023961:Gonadal Dysgenesis, 46,XX / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D009693:Nucleic Acid Hybridization; D016133:Polymerase Chain Reaction; D014960:X Chromosome / Q000235:genetics; D014998:Y Chromosome / Q000235:genetics
chemical_list: D053523:Amelogenin; D003746:Dental Enamel Proteins