Y-specific DNA sequences in male patients with 46,XX and 47,XXX karyotypes.
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.
Müller
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Division of Genetics, Children's Hospital, Boston, MA 02115.
Latt
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Donlon
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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
D005819:Genetic Markers; D004262:DNA Restriction Enzymes