title: Genetic characterization of two 46,XX males without gonadal ambiguities.
abstract: OBJECTIVE
  To evaluate hypotheses which explain phenotypic variability in sex determining region Y positive 46,XX males. We investigate two 46,XX males without gonadal ambiguities.
  
  
  METHODS
  Cytogenetic and molecular analyses were used to identify the presence of Y chromosome material and to map the translocation breakpoint. Finally, the pattern of X chromosome inactivation was studied using the methylation assay at the androgen receptor locus.
  
  
  RESULTS
  The presence of Y chromosome material, including the sex determining region Y gene, was demonstrated in both men. However, the amount of translocated Y chromosome material differed between the patients. Different X chromosome inactivation patterns were found in the patients; random in one patient and non-random in the other.
  
  
  CONCLUSIONS
  We found a lack of association between phenotype and X chromosome inactivation pattern. Our cytogenetic and molecular analyses show support for the position effect hypothesis explaining the phenotypic variability in XX males.
authors.affiliation: Department of Obstetrics and Gynaecology, University of British Columbia, Vancouver, BC, Canada.
authors.forename: Agata
authors.initials: A
authors.lastname: Minor
authors.forename: Fawziah
authors.initials: F
authors.lastname: Mohammed
authors.forename: Alla
authors.initials: A
authors.lastname: Farouk
authors.forename: Chiho
authors.initials: C
authors.lastname: Hatakeyama
authors.forename: Karynn
authors.initials: K
authors.lastname: Johnson
authors.forename: Victor
authors.initials: V
authors.lastname: Chow
authors.forename: Sai
authors.initials: S
authors.lastname: Ma
mesh_terms: D002874:Chromosome Mapping; D004247:DNA / Q000737:chemistry / Q000235:genetics; D023961:Gonadal Dysgenesis, 46,XX / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D012729:Sex Chromosome Aberrations; D051876:Sex-Determining Region Y Protein / Q000235:genetics; D049951:X Chromosome Inactivation; D055815:Young Adult
chemical_list: D051876:Sex-Determining Region Y Protein; D004247:DNA