A 45,X male with evidence of a translocation of Y euchromatin onto chromosome 15.
A 19-year-old male with azoospermia was found to have a 45,X karyotype with additional euchromatic material on 15p. The parents' karyotypes are normal. The cytogenetic data, the positive H-Y-typing, and the presence of Yp-specific restriction fragments detected in the proband's genome by molecular DNA probes suggest that the short arm of the Y chromosome, including part of the centromere, is translocated onto the nucleolus organizer region (NOR) of chromosome 15.
D000328:Adult; D002843:Chromatin / Q000235:genetics*; D002871:Chromosome Banding; D002901:Chromosomes, Human, 13-15; D022041:Euchromatin; D006801:Humans; D007621:Karyotyping; D008297:Male; D009634:Noonan Syndrome / Q000235:genetics*; D009697:Nucleolus Organizer Region / Q000648:ultrastructure; D014178:Translocation, Genetic; D014998:Y Chromosome
D002843:Chromatin; D022041:Euchromatin