A 45,X male with evidence of a translocation of Y euchromatin onto chromosome 15
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Summary
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.
Keywords
Internal Medicine Metabolic Disease Restriction Fragment Organizer Region Nucleolus Organizer Region
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