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 boys1–4. 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 chromosome3–5 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 isolated6,7. 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.
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References
Haseltine, F. P. & Ohno, S. Science 211, 1272–1278 (1981).
Gordon, J. W. & Ruddle, F. H. Science 211, 1265–1271 (1981).
Polani, P. E. in Mechanisms of Sex Differentiation in Animals and Man (eds Austin, C. R. & Edwards, R. G.) 465–529 (Academic, New York, 1981).
de la Chappelle, A. Hum. Genet. 58, 105–116 (1981).
Wolf, U. Hum. Genet. 58, 25–28 (1981).
Bishop, C. E. et al. Nature 303, 831–832 (1983).
Bishop, C. E., Guellaen, G., Geldwerth, D., Fellous, M. and Weissenbach, J. J. mol. Biol. (in the press).
Alwine, J. C., Kemp, D. J. & Stark, G. R. Proc. natn. Acad. Sci. U.S.A. 74, 5350–5354 (1977).
Singh, L. & Jones, K. W. Cell 28, 205–216 (1982).
Evans, E. P., Burtenshaw, M. D. & Cattanach, B. M. Nature 300, 443–445 (1982).
Cattanach, B. M., Evans, E. P., Burtenshaw, M. D. & Barlow, J. Nature 300, 445–446 (1982).
Ferguson-Smith, M. A. Lancet 11, 475–476 (1966).
Evans, H. J., Buckton, K. E., Spowart, G. & Carothers, A. D. Hum. Genet. 49, 11–31 (1979).
Magenis, R. E. et al. Hum. Genet. 62, 271–276 (1982).
Casanova-Bettane, M., Latron, F., Jakob, H. & Fellous, M. Hum. Genet. 58, 21–24 (1981).
Cooke, H. Nature 262, 182–186 (1976).
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Guellaen, G., Casanova, M., Bishop, C. et al. Human XX males with Y single-copy DNA fragments. Nature 307, 172–173 (1984). https://doi.org/10.1038/307172a0
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DOI: https://doi.org/10.1038/307172a0
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