Skip to main content
Log in

A case of ring Y chromosome

  • Clinical Case Reports
  • Published:
Human Genetics Aims and scope Submit manuscript

Summary

Ring Y chromosome 45,X/46,X,r(Y) was identified by fluorescence in a child with ambiguous external genitalia, urogenital sinus, vagina, uterus, and Fallopian tubes. Testicular tissue was noted on gonadal biopsy.

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.

Similar content being viewed by others

References

  • Almeida, J. de, Barcinski, M. A.: 45,X/46,X r(Y). A case of asymetrical testicular differentiation. Ann. Genet. (Paris) 17, 37–40 (1974)

    Google Scholar 

  • Buehler, E. M., Tsuchimoto, T., Buehler, V. K., Stalder, G. R.: Eine seltene Strukturanomalie des Y-Chromosoms: Ring Y. Arch. Genet. (Zür.) 47, 52–59 (1974)

    Google Scholar 

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

    Google Scholar 

  • German, J., Simpson, J. L., McLemore, G. A.: Abnormalities of human sex chromosomes: A ring Y without mosaïcism. Ann. Genet. (Paris) 16, 225–231 (1973)

    Google Scholar 

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

    Google Scholar 

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

    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)

    Google Scholar 

  • Sarto, G. E., Optiz, J. M., Inhorn, S. L.: Human sex chromosome errors. In: Comparative mammalian cytogenetics, K. Benirschke, ed., pp. 390–413. New York: Springer 1969

    Google Scholar 

  • Wilson, M. G., Stein, R. B., Towner, J. W.: Ring Y chromosome without mosaicism. Birth Defects, Orig. Art. Ser. 12, 105–112 (1976)

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Taillemite, J.L., van den Akker, J., Portnoi, M.F. et al. A case of ring Y chromosome. Hum Genet 42, 89–91 (1978). https://doi.org/10.1007/BF00291630

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00291630

Keywords

Navigation