PMID: 6537828Jan 12, 1984Paper

Human XX males with Y single-copy DNA fragments

Nature
G GuellaenJ Weissenbach

Abstract

In humans, XX maleness is the best known example of a sex reversal syndrome occurring with an incidence of one XX male among approximately 20,000 to 30,000 newborn boys. The karyotypes of the majority of these individuals are apparently normal, with respect to the numbers and structure of the chromosomes, but is in contradiction with the phenotypic sex which they display. XX maleness may be either a non Y-related mechanism triggered by a mutation on another chromosome or could be the result of the expression of some cytogenetically undetectable Y chromosome material present in the genome of such individuals. Recently, a number of human Y-specific single copy probes have been isolated. In this study, using several of these Y-specific probes we definitively demonstrate the presence of Y-chromosomal material in the genome of some 46,XX human males. These XX males carry only a fraction of the human Y chromosome. In the three positive cases reported here, presence of inclusive overlapping chromosomal fragments has been detected, implying a genetic heterogeneity of these patients.

References

Dec 1, 1977·Proceedings of the National Academy of Sciences of the United States of America·J C AlwineG R Stark
Jul 15, 1976·Nature·H Cooke
Jan 1, 1981·Human Genetics·M Casanova-BettaneM Fellous
Mar 20, 1981·Science·J W Gordon, F H Ruddle
Jun 30, 1983·Nature·C E BishopJ Weissenbach
Jan 1, 1982·Human Genetics·R E MagenisE Lovrien
Jan 1, 1981·Human Genetics·A de la Chapelle
Mar 20, 1981·Science·F P Haseltine, S Ohno
Jan 1, 1981·Human Genetics·U Wolf

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Citations

Nov 1, 1995·Genes, Chromosomes & Cancer·P SaloA de la Chapelle
Oct 1, 1994·Molecular Reproduction and Development·V R Harley, P N Goodfellow
Jun 1, 1991·Human Genetics·M KoteckiP Fichna
Oct 1, 1987·Human Genetics·B WeberA Gal
Dec 1, 1986·Human Genetics·C M DistecheD C Page
Jan 1, 1984·Human Genetics·I T CameronD T Baird
Sep 1, 1988·Human Genetics·V N Meyers-Wallen, D F Patterson
May 1, 1986·Somatic Cell and Molecular Genetics·B BaronC Bishop
Jan 1, 1992·Journal of Inherited Metabolic Disease·M A Ferguson-Smith
Oct 15, 1986·Experientia·A C Chandley
Aug 1, 1991·Theriogenology·T D BunchR E Olson
Feb 1, 1989·Cancer Genetics and Cytogenetics·J ArnemannC Fonatsch
Nov 1, 1986·The Journal of Pediatrics·P Saenger, R D Burk
Jan 16, 1999·Baillière's Clinical Endocrinology and Metabolism·H N Lim, J R Hawkins
Oct 1, 1986·Proceedings of the National Academy of Sciences of the United States of America·C M DistecheM Fellous
Mar 1, 1990·Proceedings of the National Academy of Sciences of the United States of America·M S PalmerP N Goodfellow
Apr 15, 1993·Proceedings of the National Academy of Sciences of the United States of America·K McElreaveyM Fellous
Jul 11, 1986·Nucleic Acids Research·N A AffaraL Florentin
Aug 11, 1987·Nucleic Acids Research·C A PritchardP N Goodfellow
Nov 11, 1987·Nucleic Acids Research·J ArnemannJ Schmidtke
Feb 1, 1986·American Journal of Human Genetics·G VergnaudJ Weissenbach
Apr 1, 1996·International Journal of Andrology·C ManieriV Martina
Aug 1, 1996·Acta Paediatrica Japonica; Overseas Edition·P Y Fechner
Oct 1, 1986·Annals of Human Genetics·P TippettG L Daniels
Sep 10, 1988·BMJ : British Medical Journal·M A Ferguson-Smith
Oct 1, 1985·Journal of Medical Genetics·P GoodfellowJ Wolfe
Apr 1, 1987·Journal of Medical Genetics·V J BuckleI W Craig

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