title: Y-specific DNA sequences in male patients with 46,XX and 47,XXX karyotypes.
abstract: Y chromosomal DNA sequences were detected in three of four 46,XX males and in one 47,XXX male. One reiterated Y chromosomal sequence, Y-190, was localized by in situ hybridization to the distal short arm of an X chromosome of the 47,XXX male. This result is compatible with the hypothesis that an aberrant X/Y interchange has occurred, most likely during paternal meiosis, and that this interchange accounts for Y chromosomal material and sex reversal in this 47,XXX individual.
authors.affiliation: Division of Genetics, Children's Hospital, Boston, MA 02115.
authors.forename: U
authors.initials: U
authors.lastname: Müller
authors.forename: S A
authors.initials: SA
authors.lastname: Latt
authors.forename: T
authors.initials: T
authors.lastname: Donlon
mesh_terms: D002478:Cells, Cultured; D004262:DNA Restriction Enzymes; D005819:Genetic Markers; D006801:Humans; D007621:Karyotyping; D008297:Male; D005810:Multigene Family; D009693:Nucleic Acid Hybridization; D011123:Polyploidy; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014178:Translocation, Genetic; D014960:X Chromosome; D014998:Y Chromosome
chemical_list: D005819:Genetic Markers; D004262:DNA Restriction Enzymes