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Letters to Nature
Nature 307, 170 - 171 (12 January 1984); doi:10.1038/307170a0

Genetic evidence of X–Y interchange in a human XX male

Albert de la Chapelle*, Patricia A. Tippett, Gunilla Wetterstrand & David Page§

*Department of Medical Genetics, University of Helsinki, 00290 Helsinki 29, Finland
MRC Blood Group Unit, Wolfson House, University College London, 4 Stephenson Way, London NW1 2HE, UK
Jorv Hospital, 02740 Esbo 74, Finland
§Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA

Of the hypotheses put forward to explain why occasional individuals with two X chromosomes are nonetheless male, the one that has attracted most attention is the possibility1 that one of the X chromosomes has obtained a small piece of Y chromosome which is sufficient to produce ‘maleness’. This hypothesis was based primarily on the observation that in two families with XX males2–4 both fathers were Xg(a+) and both probands Xg(a−). (Xg shows X-linked dominant inheritance.) This theory holds that an anomalous X–Y interchange at meiosis in the father resulted hi the paternal X chromosome's losing the Xg gene and acquiring a male-determining gene from the Y chromosome. While, for example, the frequencies of Xg phenotypes among XX males5,6 and the cytogenetic observation of a structural abnormality in one X7,8 are compatible with this hypothesis, direct evidence of it is lacking. Here we describe an XX male who expresses his father's allele for 12E7, a Y-linked marker, but fails to express his father's allele for Xg, an X-linked marker. These findings strongly suggest that anomalous X–Y interchange occurred in this case and perhaps in that of many other XX males. We suggest that a male-determining gene on the Y has also been translocated to the X and caused maleness in the proband. These results are discussed in the light of current models of X–Y chromosomal homology.

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