Skip to main content
SpringerLink
Log in

Mosaicism for an unbalanced Y;21 translocation in an infertile man: a case report

  • Genetics
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3

References

  1. Tüttelmann F, Werny F, Cooper TG, Kliesch S, Simoni M, Nieschlag E. Clinical experience with azoospermia: aetiology and chances for spermatozoa detection upon biopsy. Int J Androl. 2011;34:291–8.

    Article  PubMed  Google Scholar 

  2. Huang WJ, Yen PH. Genetics of spermatogenic failure. Sex Dev. 2008;2:251–9.

    Article  PubMed  CAS  Google Scholar 

  3. Vincent MC, Daudin M, De MP, Massat G, Mieusset R, Pontonnier F, et al. Cytogenetic investigations of infertile men with low sperm counts: a 25-year experience. J Androl. 2002;23:18–22. discussion 44–5.

    PubMed  Google Scholar 

  4. Van Assche E, Bonduelle M, Tournaye H, Joris H, Verheyen G, Devroey P, et al. Cytogenetics of infertile men. Hum Reprod. 1996;11 Suppl 4:1–24.

    Article  PubMed  Google Scholar 

  5. Nielsen J, Rasmussen K. Y/autosomal translocations. Clin Genet. 1976;9:609–17.

    Article  PubMed  CAS  Google Scholar 

  6. Hsu LY. Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. Am J Med Genet. 1994;53:108–40.

    Article  PubMed  CAS  Google Scholar 

  7. Schinzel A. Catalogue of unbalanced chromosome aberration in man. 2nd ed. Berlin: Walter de Gruyter; 2001.

    Google Scholar 

  8. Vogt PH, Edelmann A, Hirschmann P, Kohler MR. The azoospermia factor (AZF) of the human Y chromosome in Yq11: function and analysis in spermatogenesis. Reprod Fertil Dev. 1995;7:685–93.

    Article  PubMed  CAS  Google Scholar 

  9. Kauppi L, Barchi M, Baudat F, Romanienko PJ, Keeney S, Jasin M. Distinct properties of the XY pseudoautosomal region crucial for male meiosis. Science. 2011;331:916–20.

    Article  PubMed  CAS  Google Scholar 

  10. Gardner RJM, Sutherland GR, Shaffer LG. Chromosome abnormalities and genetic counseling. 4th ed. Oxford: Oxford University Press; 2012.

    Google Scholar 

  11. Chen CP, Lin SP, Tsai FJ, Wang TH, Chern SR, Wang W. Characterization of a de novo unbalanced Y;autosome translocation in a 45,X mentally retarded male and literature review. Fertil Steril. 2008;90:1198.e11–8.

    Google Scholar 

  12. World Health Organization. WHO laboratory manual for the examination of human semen and sperm-cervical mucus interaction. 4th ed. Cambridge: Cambridge University Press; 1999.

    Google Scholar 

  13. Röpke A, Kalinski T, Mohnike K, Sel S, Jakubiczka S, Pelz AF, et al. Distribution of sex chromosomes in dysgenetic gonads of mixed type. Cytogenet Genome Res. 2007;116:146–51.

    Article  PubMed  Google Scholar 

  14. Tüttelmann F, Simoni M, Kliesch S, Ledig S, Dworniczak B, Wieacker P, et al. Copy number variations as novel genetic cause for spermatogenic failure and male infertility. PloS One. 2011;6:e19426.

    Article  PubMed  Google Scholar 

  15. Simoni M, Bakker E, Krausz C. EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. state of the art 2004. Int J Androl. 2004;27:240–9.

    Article  PubMed  CAS  Google Scholar 

  16. Hopman AH, Ramaekers FC, Raap AK, Beck JL, Devilee P, van der Ploeg M, et al. In situ hybridization as a tool to study numerical chromosome aberrations in solid bladder tumors. Histochemistry. 1988;89:307–16.

    Article  PubMed  CAS  Google Scholar 

  17. Giltay JC, Kastrop PM, Tiemessen CH, van Inzen WG, Scheres JM, Pearson PL. Sperm analysis in a subfertile male with a Y;16 translocation, using four-color FISH. Cytogenet Cell Genet. 1999;84:67–72.

    Article  PubMed  CAS  Google Scholar 

  18. Chandley AC. Infertility. In: Emery AEH, Rimoin DL, editors. Principles and practice of medical genetics. 3rd ed. Edinburgh: Churchill Livingstone; 1996.

    Google Scholar 

  19. Jiang YT, Zhang HG, Wang RX, Yu Y, Zhang ZH, Liu RZ. Novel Y chromosome breakpoint in an infertile male with a de novo translocation t(Y;16): a case report. J Assist Reprod Genet. 2012;29:1427–30.

    Article  PubMed  Google Scholar 

  20. Conte RA, Kleyman SM, Klein V, Bialer MG, Verma RS. Characterization of a de novo t(Y;9) (q11.2;q22) by FISH technique. Ann Genet. 1996;39:10–5.

    PubMed  CAS  Google Scholar 

  21. Alves C, Carvalho F, Cremades N, Sousa M, Barros A. Unique (Y;13) translocation in a male with oligozoospermia: cytogenetic and molecular studies. Eur J Hum Genet. 2002;10:467–74.

    Article  PubMed  CAS  Google Scholar 

  22. Rouyer F, Simmler MC, Johnsson C, Vergnaud G, Cooke HJ, Weissenbach J. A gradient of sex linkage in the pseudoautosomal region of the human sex chromosomes. Nature. 1986;319:291–5.

    Article  PubMed  CAS  Google Scholar 

Download references

Acknowledgments

We thank Katja Hagen, Anja Lechtermann and Helga Linke for technical support and Claudia Krallmann, M.D. for help with clinical workup and contacting the patient.

This work was supported by grants from the German Society of Andrology (Young Researcher Award 2010) and the Deutsche Forschungsgemeinschaft (DFG TU 298/1-1) to F.T.

Disclosure

The authors have nothing to disclose.

Author information

Authors and Affiliations

  1. Institute of Human Genetics, University of Münster, Vesaliusweg 12-14, 48149, Münster, Germany

    Albrecht Röpke, Yvonne Stratis, Dajana Dossow-Scheele, Peter Wieacker & Frank Tüttelmann

  2. Department of Clinical Andrology, Centre of Reproductive Medicine and Andrology, University of Münster, Albert-Schweitzer-Campus 1, Building D11, 48129, Münster, Germany

    Sabine Kliesch

Authors
  1. Albrecht Röpke
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Yvonne Stratis
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Dajana Dossow-Scheele
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Peter Wieacker
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Sabine Kliesch
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Frank Tüttelmann
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Frank Tüttelmann.

Additional information

Capsule

This is an extraordinary case of mosaicism for an unbalanced Y;autosome translocation in an infertile but otherwise healthy man. FISH on spermatozoa may have clinical implications concerning pregnancy chances and preimplantation genetic diagnostics.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Röpke, A., Stratis, Y., Dossow-Scheele, D. et al. Mosaicism for an unbalanced Y;21 translocation in an infertile man: a case report. J Assist Reprod Genet 30, 1553–1558 (2013). https://doi.org/10.1007/s10815-013-0122-y

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10815-013-0122-y

Keywords

Search

Navigation