Article

Presence of H-Y antigen in female patients with sex-chromosome mosaics and absence of testicular tissue

  1. Dr. Ulrich Müller1,*,
  2. Antonia Mayerova1,
  3. Marco Fraccaro2,
  4. Orsetta Zuffardi2,
  5. Margareta Mikkelsen3,
  6. Andrea Prader4

Article first published online: 2 JUN 2005

DOI: 10.1002/ajmg.1320150215

Issue

American Journal of Medical Genetics

American Journal of Medical Genetics

Volume 15, Issue 2, pages 315–321, June 1983

Additional Information

How to Cite

Müller, U., Mayerova, A., Fraccaro, M., Zuffardi, O., Mikkelsen, M. and Prader, A. (1983), Presence of H-Y antigen in female patients with sex-chromosome mosaics and absence of testicular tissue. Am. J. Med. Genet., 15: 315–321. doi: 10.1002/ajmg.1320150215

Author Information

  1. 1

    Institute of Human Genetics, University of Freiburg, Freiburg, Federal Republic of Germany

  2. 2

    Institute of Medical Genetics, University of Pavia, Pavia, Italy

  3. 3

    John F. Kennedy Institute, Department of Medical Genetics, Glostrup, Denmark

  4. 4

    Department of Pediatrics, University of Zürich, Kinderspital, Zürich, Switzerland

*Institute of Human Genetics, University of Freiburg, Albertstrasse 11, 78 Freiburg, Federal Republic of Germany

Publication History

  1. Issue published online: 2 JUN 2005
  2. Article first published online: 2 JUN 2005
  3. Manuscript Revised: 26 JAN 1983
  4. Manuscript Received: 25 OCT 1982

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Keywords:

  • H-Y antigen;
  • gonosomal mixoploidy;
  • gonadal dysgenesis;
  • gonadal differentiation

Abstract

H-Y antigen was tested in five women with sex chromosome mosaicism and gonadal streaks. Three patients had a 45,X/46,XY or 46,X,der(Y) and two a 45,X/46,X,der(X) chromosome constitution. All patients were H-Y antigen positive. Lack of testis differentiation in these women may be explained by subthreshold expression of H-Y antigen, different H-Y antigen molecules, and/or different tissue distribution of the chromosome mosaicism.

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