Summary
A phenotypically normal 32-year-old male with azoospermia was found to have a 45,X karyotype with presence of excess euchromatic material on 14p. The parents' karyotypes are normal. This observation is interpreted as a Y/14 translocation with loss of the heterochromatic Y chromosome material.
Similar content being viewed by others
References
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)
Forabosco, A., Carratu, A., Assuma, M., De Pol A., Dutrillaux, B., Cheli, E.: Male with 45,X karyotype. Clin. Genet. 12, 97–100 (1977)
Jacobs, P. A., Ross, A.: Structural abnormalities of the Y chromosome in man. Nature 210, 352 (1966)
Lo Curto, F., Pucci, E., Scappaticci, S., Scotta, S., Severi, F., Burgio, G. B., Fraccaro, M.: XO and male phenotype. Amer. J. Dis. Child. 128, 90–91 (1974)
Narahara, K., Yabuuchi, H., Kimura, S., Kimoto, H.: A case of a reciprocal translocation between the Y and no. 1 chromosomes. Jap. J. Hum. Genet. 23, 225–231 (1978)
Noël, L.: Translocation de l'hétérochromatine distale du chromosome Y sur un autosome. 4 observations familiales. Thèse de Doctorat en Médecine, Université Scientifique et Médicale de Grenoble, 1979
Subrt, I., Blehová, B.: Robertsonian translocation between the Y and 15. Hum. Genet. 23, 305–309 (1974)
Tiepolo, L., Zuffardi, O.: Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum. Genet. 34, 119–124 (1976)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Turleau, C., Chavin-Colin, F. & de Grouchy, J. A 45,X male with translocation of euchromatic Y chromosome material. Hum Genet 53, 299–302 (1980). https://doi.org/10.1007/BF00287044
Received:
Published:
Issue Date:
DOI: https://doi.org/10.1007/BF00287044