Skip to main content

Nonmosaic 46,X,r(Y) karyotype with female phenotype


A nonmosaic case of ring Y chromosome is described. The patient is phenotypically female and has streak gonads. The histologic examination revealed dysgenetic seminiferous tubules in the streaks and epididymislike tubules besides them. The possibilities of the development of the phenotype and the streaks are discussed.

This is a preview of subscription content, access via your institution.


  • Bühler, E. M., Tsuchimoto, T., Bühler, U. K., Stalder, G. R.: Eine seltene Strukturanomalie des Y-Chromosomes. Arch. Genet. (Zur.) 47, 52–59 (1974)

    Google Scholar 

  • Caspersson, T., Zech, L., Johansson, C.: Analysis of human metaphase chromosome set by aid of DNA binding fluorescent agents. Exp. Cell Res. 62, 490–492 (1970)

    PubMed  Google Scholar 

  • Chandley, A., Edmond, P.: Meiotic studies on a subfertile patient with a ring Y chromosome. Cytogenetics 10, 295–304 (1971)

    PubMed  Google Scholar 

  • Fabris, C., Franceschini, P., Bogetti, G., Ponzone, A.: Sex chromosome anomalies detection and fluorescence. Acta Paediat. Scand. 62, 307–308 (1973)

    PubMed  Google Scholar 

  • German, J. L., Simpson, J. L., McLemore, G. A., Jr.: Abnormalities of human sex chromosomes. 1-A ring Y without mosaicism. Ann. Génét. 16, 225–231 (1973)

    Google Scholar 

  • Hungerford, D. A.: Leukocytes cultured from small inocula of whole blood and the preparation of metaphase chromosomes by treatment with hypotonic KCL. Stain Technol 40, 333–338 (1965)

    PubMed  Google Scholar 

  • Jacobs, P. A., Ross, A.: Structural abnormalities of the Y chromosome in man. Nature (Lond.) 210, 352–354 (1966)

    Google Scholar 

  • Khudr, G., Benirschke, K.: Y Ring chromosome associated with gonadoblastoma in situ. Obstet. Gynec. 41, 897–901 (1973)

    PubMed  Google Scholar 

  • Maeda, T., Ohno, M., Ishibashi, A., Samejima, M., Sasaki, K.: Ring Y chromosome: 45,X/ 46,X,r(Y) chromosome mosaicism in a phenotypically normal male with azoospermia. Hum. Genet. 34, 99–102 (1976)

    PubMed  Google Scholar 

  • Ruthner, U., Golob, E.: 45,X/45,X,ace(?Yp)+/46,X,r(Y) in a phenotypically normal newborn male. Humangenetik 22, 177–180 (1974)

    PubMed  Google Scholar 

  • Sarto, G. E., Opitz, J. M., Inhorn, S. L.: Human sex chromosome errors in comparative mammalian cytogenetics (K. Benirschke, ed.), pp. 390–410. Berlin-Heidelberg-New York: Springer 1969

    Google Scholar 

  • Siebers, J. W., Vogel, W., Hepp, H., Bolze, H., Dittrich, A.: Structural aberrations of the Y chromosome and the corresponding phenotype. Humangenetik 19, 57–66 (1973)

    PubMed  Google Scholar 

  • Sumner, A. T., Evans, H. J., Buckland, R. A.: New technique for distinguishing between human chromosomes. Nature New Biol. 232, 31–32 (1971)

    PubMed  Google Scholar 

  • Sumner, A. T.: A simple technique for demonstrating centromeric heterochromatin. Exp. Cell Res. 75, 304–306 (1972)

    PubMed  Google Scholar 

  • 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)

    PubMed  Google Scholar 

  • Zakharov, A. F., Baranovskaya, L. I., Ibraimov, A. I., Benjusch, V. A., Demintseva, V. S., Oblapenko, N. G.: Differential spiralization along mammalian chromosomes. Chromosoma (Berl.) 44, 343–359 (1974)

    Google Scholar 

Download references

Author information

Authors and Affiliations


Additional information

Supported by the Scientific Research Council, Ministry of Health, Hungary, 5-12-1101-02-1/L.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

László, J., Gaál, M. & Bósze, P. Nonmosaic 46,X,r(Y) karyotype with female phenotype. Hum. Genet. 38, 351–356 (1977).

Download citation

  • Received:

  • Issue Date:

  • DOI:


  • Internal Medicine
  • Metabolic Disease
  • Histologic Examination
  • Seminiferous Tubule
  • Female Phenotype