title: Molecular cytogenetic analysis of XX males using Y-specific DNA sequences, including SRY.
abstract: XX maleness is the most common condition in which testes develop in the absence of a cytogenetically detectable Y chromosome. Using molecular techniques, it is possible to detect Yp sequences in the majority of XX males. In this study, we could detect Y-specific sequences, including the sex-determining region of the Y chromosome (SRY), using fluorescence in situ hybridization. In 5 out of 6 previously unpublished XX males, SRY was translocated onto the terminal part of an X chromosome. This is the first report in which translocation of an SRY-bearing fragment to an X chromosome in XX males could be directly demonstrated.
authors.affiliation: Department of Medical Genetics, University of Antwerp--UIA, Wilrijk, Belgium.
authors.forename: B
authors.initials: B
authors.lastname: Van der Auwera
authors.forename: N
authors.initials: N
authors.lastname: Van Roy
authors.forename: A
authors.initials: A
authors.lastname: De Paepe
authors.forename: J R
authors.initials: JR
authors.lastname: Hawkins
authors.forename: I
authors.initials: I
authors.lastname: Liebaers
authors.forename: S
authors.initials: S
authors.lastname: Castedo
authors.forename: J
authors.initials: J
authors.lastname: Dumon
authors.forename: F
authors.initials: F
authors.lastname: Speleman
mesh_terms: D000293:Adolescent; D000328:Adult; D015139:Blotting, Southern; D015342:DNA Probes / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D005453:Fluorescence; D006801:Humans; D008297:Male; D009687:Nuclear Proteins; D009693:Nucleic Acid Hybridization; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D012732:Sex Determination Analysis; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors; D014178:Translocation, Genetic / Q000235:genetics*; D014960:X Chromosome; D014998:Y Chromosome
chemical_list: D015342:DNA Probes; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors