Summary
A patient with a deletion of the distal portion of the long arm (q21) of chromosome Y is described clinically and cytogenetically. The proband has a normal male habitus but with azoospermia.
The proband was investigated because of infertility. Male relatives were also investigated cytogenetically. The deleted Y chromosome was measured and compared with the normal Y of male family members. The results suggest that no Y euchromatin was lost.
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Cohen, G., Manuel, A., Cohen, M. et al. A deletion of heterochromatin only of the Y chromosome in an azoospermic male. Hum Genet 64, 297–300 (1983). https://doi.org/10.1007/BF00279416
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DOI: https://doi.org/10.1007/BF00279416