Summary
XX maleness is the most common condition in which testes develop in the absence of a cytogenetically detectable Y chromosome. Using molecular techniques, it is possible to detect Yp sequences in the majority of XX males. In this study, we could detect Y-specific sequences, including the sex-determining region of the Y chromosome (SRY), using fluorescence in situ hybridization. In 5 out of 6 previously unpublished XX males, SRY was translocated onto the terminal part of an X chromosome. This is the first report in which translocation of an SRY-bearing fragment to an X chromosome in XX males could be directly demonstrated.
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Van der Auwera, B., Van Roy, N., De Paepe, A. et al. Molecular cytogenetic analysis of XX males using Y-specific DNA sequences, including SRY. Hum Genet 89, 23–28 (1992). https://doi.org/10.1007/BF00207036
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DOI: https://doi.org/10.1007/BF00207036