Skip to main content
Log in

A new case of Y to X translocation in a female

  • Original Investigations
  • Published:
Human Genetics Aims and scope Submit manuscript

Summary

An unbalanced Y to X translocation due to a de novo mutation is described in a female with some clinical features of the Turner syndrome. Her karyotype is defined as 46,X,t(X;Y)(Xp11.2;Yq11). Hae III restriction analysis revealed an amount of male-specific DNA sequences in the normal male range. DNA replication analysis showed that in all cells studied the translocation X chromosome was late replicating and that the X segment of the translocation chromosome was later replicating while replication of the Y segment varied. A serologic test indicated a reduced titer of H-Y antigen, and biochemical studies for the enzyme steroid sulfatase revealed activity in the male range.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Bernstein, R., Wagner, J., Isdale, J., Nurse, G. T., Lane, A. B., Jenkins, T.: XY translocation in a retarded phenotypic male. J. Med. Genet. 15, 466–474 (1978)

    Google Scholar 

  • Borgaonkar, D. S., Sroka, B. M., Flores, M.: Y to X translocation in a girl. Lancet 1974 I, 68–69

    Google Scholar 

  • Cooke, H. J.: Repeated sequence specific to human males. Nature 262, 182–186 (1976)

    Google Scholar 

  • Fellous, M., Günther, E., Kemler, R., Wiels, J., Berger, R., Guenet, J. L., Jacob, H., Jacob, F.: Association of the H-Y male antigen with β 2 microglobulin on human lymphoid and differentiated mouse teratocarcinoma cell lines. J. Exp. Med. 148, 58–70 (1978)

    Google Scholar 

  • Ferguson-Smith, M. A.: Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations. J. Med. Genet. 2, 142–155 (1965)

    Google Scholar 

  • Fraccaro, M., Maraschio, P., Pasquali, F., Scappaticci, S.: Women heterozygous for deficiency of the (p21→pter) region of the X chromosome are fertile. Hum. Genet. 39, 283–292 (1977)

    Google Scholar 

  • Khudr, G., Benirschke, K., Judd, H. L., Strauss, J.: Y to X translocation in a woman with reproductive failure—a new rearrangement. JAMA 226, 544–549 (1973)

    Google Scholar 

  • Koo, G. C., Wachtel, S. S., Krupen-Brown, K., Mittl, L. R.: Mapping the locus of the H-Y gene on the human Y chromosome. Science 198, 940–942 (1977)

    Google Scholar 

  • Kunkel, L. M., Smith, K. D., Boyer, S. H., Borgaonkar, D. S., Wachtel, S. S., Miller, O. J., Breg, W. R., Jones, H. W. J. R., Rary, J. M.: Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc. Natl. Acad. Sci. USA 74, 1245–1249 (1977)

    Google Scholar 

  • Mohandas, T., Shapiro, L. J., Sparkes, R. S., Sparkes, M. C.: Regional assignment of the steroid sulfatase-X-linked ichthyosis locus: Implications for a non-inactivated region on the short arm of the human X-chromosome. Proc. Natl. Acad. Sci. USA 76, 5779–5783 (1979)

    Google Scholar 

  • Müller, C. R., Westerveld, A., Migl, B., Franke, W., Ropers, H. H.: Regional assignment of the gene locus for steroid sulfatase. Hum. Genet. (in press, 1980a)

  • Müller, C. R., Migl, B., Traupe, H., Ropers, H. H.: X-linked steroid sulfatase: Evidence for different gene dosage in males and females. Hum. Genet. (in press, 1980b)

  • Müller, U., Wolf, U., Siebers, J.-W., Günther, E.: Evidence for a gonad-specific receptor for H-Y antigen: Binding of exogenous H-Y antigen to gonadal cells is independent of β 2 microglobulin. Cell 17, 331–335 (1979)

    Google Scholar 

  • Pearson, P. L., Bobrow, U.: Definitive evidence for the short arm of the Y chromosome associating with the X chromosome during meiosis in the human male. Nature 226, 959–961 (1970)

    Google Scholar 

  • Prantera, G., Pimpinelli, S., Rocchi, A.: Effects of distamycin A on human leucocytes in vitro. Cytogenet. Cell Genet. 23, 103–107 (1979)

    Google Scholar 

  • Race, R. R., Sanger, R.: Blood groups in man, 6th ed. Oxford, London, Edinburgh, Melbourne: Blackwell Scientific Publications 1975

    Google Scholar 

  • Rosenfeld, R. G., Luzzatti, L., Hintz, R. L., Miller, O. J., Koo, G. C., Wachtel, S. S.: Sexual and somatic determinants of the human Y chromosome: Studies in a 46,XYp- phenotypic female. Am. J. Hum. Genet. 31, 458–468 (1979)

    Google Scholar 

  • Schmid, M.: Demonstration of Y/autosomal translocations with distamycin A. Hum. Genet. 53, 107–109 (1980)

    Google Scholar 

  • Shapiro, L. J., Mohandas, T., Weiss, R., Romeo, G.: Noninactivation of an X chromosome locus in man. Science 204, 1224–1226 (1979)

    Google Scholar 

  • Tiepolo, L., Zuffardi, O., Rodewald, A.: Nullisomy for the distal portion of Xp in a male child with a X/Y translocation. Hum. Genet. 39, 277–281 (1977)

    Google Scholar 

  • Van den Berghe, H., Petit, P., Fryns, J. P.: Y to X translocation in man. Hum. Genet. 36, 129–141 (1977)

    Google Scholar 

  • Wachtel, S. S.: H-Y antigen and the genetics of sex determination. Science 198, 797–799 (1977)

    Google Scholar 

  • Willard, H. F.: Tissue-specific heterogeneity in DNA replication patterns of human X chromosome. Chromosome 61, 61–73 (1977)

    Google Scholar 

  • Wolf, U., Fraccaro, M., Mayerová, A., Hecht, Th., Maraschio, P., Hameister, H.: A gene controling H-Y antigen on the X chromosome. Tentative assignment by deletion mapping to Xp22.3. Hum. Genet. 54, 149–154 (1980)

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Hecht, T., Cooke, H.J., Cerrillo, M. et al. A new case of Y to X translocation in a female. Hum Genet 54, 303–307 (1980). https://doi.org/10.1007/BF00291573

Download citation

  • Received:

  • Revised:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00291573

Keywords

Navigation