Skip to main content

Advertisement

Log in

Case report: elevated sperm aneuploidy levels in an infertile Robertsonian translocation t(21;21) carrier with possible interchromosomal effect

  • 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

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

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

References

  1. Shi Q, Martin RH. Aneuploidy in human spermatozoa: FISH analysis in men with constitutional chromosomal abnormalities, and in infertile men. Reprod. 2001;121(5):655–66. Review.

    Article  CAS  Google Scholar 

  2. Douet-Guilbert N, Bris MJ, Amice V, Marchetti C, Delobel B, Amice J, et al. Interchromosomal effect in sperm of males with translocations: report of 6 cases and review of the literature. Int J Androl. 2005;28(6):372–9.

    Article  PubMed  CAS  Google Scholar 

  3. Vegetti W, Van Assche E, Frias A, Verheyen G, Bianchi MM, Bonduelle M, et al. Correlation between semen parameters and sperm aneuploidy rates investigated by fluorescence in-situ hybridization in infertile men. Hum Reprod. 2000;15(2):351–65.

    Article  PubMed  CAS  Google Scholar 

  4. Härkönen K, Suominen J, Lähdetie J. Aneuploidy in spermatozoa of infertile men with teratozoospermia. Int J Androl. 2001;24(4):197–205.

    Article  PubMed  Google Scholar 

  5. Acar H, Kilinç M, Cora T, Aktan M, Taşkapu H. Incidence of chromosome 8,10, X and Y aneuploidies in sperm nucleus of infertile men detected by FISH. Urol Int. 2000;64(4):202–8.

    Article  PubMed  CAS  Google Scholar 

  6. Johnson MD. Genetic risks of intracytoplasmic sperm injection in the treatment of male infertility: recommendations for genetic counselling and screening. Fertil Steril. 1998;70:397–411.

    Article  PubMed  CAS  Google Scholar 

  7. Carrell DT, Wilcox AL, Udoff LC, Thorp C, Campbell B. Chromosome 15 aneuploidy in the sperm and conceptus of a sibling with variable familial expression of round-headed sperm syndrome. Fertil Steril. 2001;76(6):1258–60.

    Article  PubMed  CAS  Google Scholar 

  8. Causio F, Fischetto R, Sarcina E, Geusa S, Tartagni M. Chromosome analysis of spontaneous abortions after in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI). Eur J Obstet Gynecol Reprod Biol. 2002;10;105(1):44–8.

    Google Scholar 

  9. Li TC, Makris M, Tomsu M, Tuckerman E, Laird S. Recurrent miscarriage: aetiology, management and prognosis. Hum Reprod Update. 2002;8:463–81.

    Article  PubMed  CAS  Google Scholar 

  10. Griffin DK, Abruzzo MA, Millie EA, Sheean LA, Feingold E, Sherman SL, Hassold TJ. Non-disjunction in human sperm: evidence for an effect of increasing paternal age. Hum Mol Genet. 1995;4(12):2227–32.

    Article  PubMed  CAS  Google Scholar 

  11. Williams BJ, Ballenger CA, Malter HE, Bishop F, Tucker M, Zwingman TA, Hassold TJ. Non-disjunction in human sperm: results of fluorescence in situ hybridization studies using two and three probes. Hum Mol Genet. 1993;2(11):1929–36.

    Article  PubMed  CAS  Google Scholar 

  12. Templado C, Vidal F, Estop A. Aneuploidy in human spermatozoa. Cytogenet Genome Res. 2011;133(2–4):91–9.

    Article  PubMed  CAS  Google Scholar 

  13. Anton E, Blanco J, Egozcue J, Vidal F. Sperm FISH studies in seven male carriers of Robertsonian translocation t(13;14)(q10;q10). Hum Reprod. 2004;19:1345–51.

    Article  PubMed  CAS  Google Scholar 

  14. Kirkpatrick G, Ferguson KA, Gao H, Tang S, Chow V, Yuen BH. A comparison of sperm aneuploidy rates between infertile men with normal and abnormal karyotypes. Hum Reprod. 2008;23(7):1679–83.

    Article  PubMed  Google Scholar 

  15. Pang MG, Hoegerman SF, Cuticchia AJ, Moon SY, Doncel GF, Acosta AA, Kearns WG. Detection of aneuploidy for chromosomes 4, 6, 7, 8, 9 10, 11, 12, 13, 17, 18, 21, X and Y by fluorescence in situ hybridization in spermatozoa from nine patients with oligoasthenoteratozoospermia undergoing intracytoplasmic sperm injection. Hum Reprod. 1999;14:1266–73.

    Article  PubMed  CAS  Google Scholar 

  16. Rives N, Saint Clair A, Mazurier S, Sibert L, Simeon N, Joly G, Mace B. Relationship between clinical phenotype, semen parameters and aneuploidy frequency in sperm nuclei of 50 infertile males. Hum Genet. 1999;105:266–72.

    Article  PubMed  CAS  Google Scholar 

  17. Blanco J, Egozcue J, Vidal F. Interchromosomal effect for chromosome 21 in carriers of structural chromosome reorganizations determined by fluorescence in situ hybridization on sperm nuclei. Hum Genet. 2000;106:500–5.

    Article  PubMed  CAS  Google Scholar 

  18. Palermo GD, Colombero LT, Hariprashad JJ, Schlegel PN, Rosenwaks Z. Chromosome analysis of epipidymal and testicular sperm in azoospermic patients undergoing ICSI. Hum Reprod. 2002;17:570–5.

    Article  PubMed  Google Scholar 

  19. Roux C, Tripogney C, Morel F, Joanne C, Fellmann F, Clavequin MC, et al. Segregation of chromosomes in sperm of Robertsonian translocation carriers. Cytogenet Genome Res. 2005;111(3–4):291–6.

    Article  PubMed  CAS  Google Scholar 

  20. Honda H, Miharu N, Ohashi Y, Honda N, Hara T, Ohama K. Analysis of segregation and aneuploidy in two reciprocal translocation carriers, t(3;9)(q26.2;q32) and t(3;9)(p25;q32), by triple-color fluorescence in situ hybridization. Hum Genet. 1999;105:428–36.

    Article  PubMed  CAS  Google Scholar 

  21. Estop AM, Cieply K, Munne S, Surti U, Wakim A, Feingold E. Is there an interchromosomal effect in reciprocal translocation carriers? Sperm FISH studies. Hum Genet. 2000;106:517–24.

    Article  PubMed  CAS  Google Scholar 

  22. Oliver-Bonet M, Navarro J, Codina-Pascual M, Abad C, Guitart M, Egozcue J, et al. From spermatocytes to sperm: meiotic behaviour of human male reciprocal translocations. Hum Reprod. 2004;19:2515–22.

    Article  PubMed  CAS  Google Scholar 

  23. Chen Y, Huang J, Liu P, Qiao J. Analysis of meiotic segregation patterns and interchromosomal effects in sperm from six males with Robertsonian translocations. J Assist Reprod Genet. 2007;24(9):406–11.

    Article  PubMed  Google Scholar 

  24. Pfeffer J, Pang MG, Hoegerman SF, Osgood CJ, Stacey MW, Mayer J, et al. Aneuploidy frequencies in semen fractions from ten oligoasthenoteratozoospermic patients donating sperm for intracytoplasmic sperm injection. Fertil Steril. 1999;72:472–8.

    Article  PubMed  CAS  Google Scholar 

  25. Calogero AE, De Palma A, Grazioso C, Barone N, Romeo R, Rappazzo G, et al. Aneuploidy rate in spermatozoa of selected men with abnormal semen parameters. Hum Reprod. 2001;16:1172–9.

    Article  PubMed  CAS  Google Scholar 

  26. Pellestor F, Imbert I, Andreo B, Lefort G. Study of the occurrence of interchromosomal effect in spermatozoa of chromosomal rearrangement carriers by fluorescence in-situ hybridization and primed in-situ labelling techniques. Hum Reprod. 2001;16:1155–64.

    Article  PubMed  CAS  Google Scholar 

  27. Dohle GR, Colpi GM, Hargreave TB, Papp GK, Jungwirth A, Weidner W. EAU working group on male infertility. EAU Guidelines on male infertility. Eur Urol. 2005;48(5):703–11.

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to N. Rogenhofer.

Additional information

Capsule

Sperm aneuploidy and Robertsonian translocation with possible interchromosomal effect.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Rogenhofer, N., Dürl, S., Ochsenkühn, R. et al. Case report: elevated sperm aneuploidy levels in an infertile Robertsonian translocation t(21;21) carrier with possible interchromosomal effect. J Assist Reprod Genet 29, 343–346 (2012). https://doi.org/10.1007/s10815-012-9720-3

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10815-012-9720-3

Keywords

Navigation