PMID: 6537827Jan 12, 1984Paper

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

Nature
A de la ChapelleD C Page

Abstract

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 possibility 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 males 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 in 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 males and the cytogenetic observation of a structural abnormality in one X 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 t...Continue Reading

References

Jan 1, 1971·Humangenetik·A De la ChapelleC J Johansson
Sep 1, 1982·Proceedings of the National Academy of Sciences of the United States of America·D PageD Botstein
Jan 1, 1982·Human Genetics·R E MagenisE Lovrien
Jan 1, 1981·Human Genetics·A de la Chapelle
Jan 29, 1981·Nature·P N Goodfellow, P Tippett
Apr 2, 2005·Science·R McNeill Alexander

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Citations

Dec 19, 2001·The Journal of Experimental Zoology·H Ostrer
Sep 5, 2002·Prenatal Diagnosis·V NatafJ Selva
Jan 1, 1971·Humangenetik·A De la ChapelleC J Johansson
Dec 1, 1986·Human Genetics·C M DistecheD C Page
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May 23, 2003·APMIS : Acta Pathologica, Microbiologica, Et Immunologica Scandinavica·Hector ChemesMercedes Gamboni
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Feb 1, 1986·American Journal of Human Genetics·G VergnaudJ Weissenbach
Oct 1, 1986·Annals of Human Genetics·P TippettG L Daniels
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Apr 10, 2012·Annual Review of Genomics and Human Genetics·Jennifer F Hughes, Steve Rozen
May 16, 1985·Nature·D C PageJ Weissenbach
Nov 1, 1989·Pediatric Annals·H Ostrer
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