Summary
Analysis of G-banded prometaphase chromosomes from three XX males revealed extra bands on the distal end of one X short arm. These bands were similar both in size and staining properties to the distal Y short arm of their fathers (in the two cases examined) and also to other chromosomally normal males. The extra material on the abnormal X chromosomes was not C-or G-11 positive in the two cases examined, suggesting that the proximal Y long arm was not present.
Previous karyotype-phenotype correlations with structurally altered Y chromosomes provided evidence for localization of male determinants on the Y short arm. The present findings in XX males provide support for more precise localization, to bands p11.2→pter of Y short arm.
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Magenis, R.E., Webb, M.J., McKean, R.S. et al. Translocation(X;Y)(p22.33;p11.2) in XX males: Etiology of male phenotype. Hum Genet 62, 271–276 (1982). https://doi.org/10.1007/BF00333535
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DOI: https://doi.org/10.1007/BF00333535