Summary
This paper reports an attempt to determine whether the short arm of one of the X chromosomes in XX males is longer than normal. In a blind study comparing coded photomicrographs of 15 G-banded mitoses from each of five XX males and five control females, the results were ambiguous and somewhat contradictory, but gave the impression of, or were compatible with, an XXp+ phenomenon in at least two of the five XX males. Measurements of the X chromosomes from the above cells and, in addition, from 15 mitoses from each of six XXY males, failed to disclose any XXp+ phenomenon. Statistical analysis indicated that in the five XX males there was no difference in the lengths of the two Xp arms. The reasons for the apparent discrepancy between the results of ocular inspection and measurement are discussed. The putative heteromorphism might be an alteration in shape, staining intensity, or position of bands, neither of which necessarily leads to an increase in length. We conclude that our results do not indicate any XXp+ phenomenon in the five XX males tested. However, the presence or absence of XXp+ is not in itself evidence for or against interchange between the X and Y in the paternal meiosis. Our results emphasize that the etiology of XX males is likely to be heterogeneous.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
de la Chapelle, A., Hortling, H., Niemi, M., Wennström, J.: XX sex chromosomes in a human male. First case. Acta Med. Scand. [Suppl.] 412, 25–38 (1964)
de la Chapelle, A., Similä, S., Lanning, M., Kontturi, M., Johansson, C.-J.: Two further males with female karyotypes. Humangenetik 11, 286–294 (1971)
de la Chapelle, A.: Analytical review: Nature and origin of males with XX sex chromosomes. Am. J. Hum. Genet. 24, 71–105 (1972)
de la Chapelle, A., Schröder, J., Murros, J., Tallqvist, G.: Two XX males in one family and additional observations bearing on the etiology of XX males. Clin. Genet. 11, 91–106 (1977)
de la Chapelle, A., Koo, G. C., Wachtel, S. S.: Recessive sex-determining genes in human XX male syndrome. Cell 15, 837–842 (1978)
Evans, H. J., Buckton, K. E., Spowart, G., Carothers, A. D.: Heteromorphic X chromosomes in 46,XX males: evidence for the involvement of X-Y interchange. Hum. Genet. 49, 11–31 (1979)
Ferguson-Smith, M. A.: X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome. Lancet 1966 II, 475–476
Madan, K., Walker, S.: Possible evidence for Xp+ in an XX male. Lancet 1974 I, 1223
Madan, K.: Chromosome measurements on an XXp+ male. Hum. Genet. 32, 141–142 (1976)
Wachtel, S. S., Koo, G. C., Breg, W. R., Thaler, H. T., Dillard, G. M., Rosenthal, I. M., Dosik, H., Gerald, P. S., Saenger, P., New, M., Lieber, E., Miller, O. J.: Serologic detection of a Y-linked gene in XX males and XX true hermaphrodites. N. Engl. J. Med. 295, 750–754 (1976)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
de la Chapelle, A., Simola, K., Simola, P. et al. Heteromorphic X Chromosomes in 46,XX males?. Hum Genet 52, 157–167 (1979). https://doi.org/10.1007/BF00271568
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00271568