Summary
A family is reported in which the mother and two sons are carriers of a Y-X translocation. The distal segment of the short arm of the X chromosome appears to have been deleted to give place to a translocation of the distal part of the long arm of the Y chromosome. Apart from short stature the mother is essentially free of stigmata, while the sons show a combination of mental retardation, hypertelorism, simian creases, clinodactyly, scanty palmar lines, and dry fragile skin. The cases described are discussed against the background of the few known previously published cases.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Arrighi, F. E., Hsu, T. C.: Localization of heterochromatin in human chromosomes. Cytogenetics 10, 81–86 (1971)
Berghe, H. Van den, Petit, P., Fryns, J. P.: Y to X translocation in man. Hum. Genet. 36, 129–141 (1977)
Bernstein, R., Wagner, J., Isdale, J., Nurse, G. T., Lane, A. B., Jenkins, T.: X-Y translocation in a retarded phenotypic male. Clinical, cytogenetic, biochemical, and serogenetic studies. J. Med. Genet. 15, 466–474 (1978)
Böök, J. A., Eilon, B., Halbrecht, I., Komlos, L., Shabtay, F.: Isochromosome Y[46,X,i(Yq)] and female phenotype. Clin. Genet. 4, 410–414 (1973)
Borgaonkar, D. S., Sroka, B. M., Flores, M.: Y-to-X translocation in a girl. Lancet 1974I, 68–69
Borsgård, J. I., Sabel, K.-G., Wahlström, J.: A case of trisomy-G with simultaneous balanced D-D translocation. Hereditas 77, 159–161 (1974)
Jacobs, P.: Structural abnormalities of the sex chromosomes. Br. Med. Bull. 25, 94–98 (1969)
Khudr, G., Benirschke, K., Judd, H. L., Strauss, J.: Y to X translocation in av woman with reproductive failure. JAMA 226, 544–549 (1973)
Mikkelsen, M.: Identification of active and inactive X chromosomes by BrdU incorporation and fluorochrome staining. In: Chromosomes today, Vol. 5, Pearson, P. L., Lewis, K. R. (eds.), pp. 409–413. New York: Wiley 1976
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)
Wachtel, S. S.: H-Y antigen and the genetics of sex determination. Science 198, 797–799 (1977)
Wahlström, J.: Are variations in length of Y chromosomes due to structural changes? Hereditas 69, 125–128 (1971)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Åkesson, H.O., Hagberg, B. & Wahlström, J. Y-to-X chromosome translocation observed in two generations. Hum. Genet. 55, 39–42 (1980). https://doi.org/10.1007/BF00329124
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00329124