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Meiotic segregation of chromosomes 13 and 14 in sperm of heterozygous Robertsonian translocation der(13;14)(q10;q10) carriers

Cytology and Genetics volume 48, pages 175–179 (2014)Cite this article

Abstract

Meiotic segregation of chromosomes 13 and 14 was assessed by fluorescence in situ hybridization on sperm of five heterozygous carriers of the most frequent Robertsonian translocation der(13;14). Alternate segregation mode was predominant (mean 78.2 ± 5.7%). The prevalence of balanced sperm varied from 69.4 to 86.5%. Adjacent segregation mode was detected in 18.64 ± 4.90% of sperm; 3:0 mode was detected in 2.48 ± 1.20% of sperm. These results are informative for reproductive counseling of Robertsonian translocation der(13;14) carriers providing information for assessment of probability of receiving normal/balanced embryos in assisted reproduction cycles.

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References

  1. Nielsen, J. and Wohlert, M., Chromosome abnormalities found among 34910 newborn children: results from 13-year incidence study in Arhus, Denmark, Hum. Genet., 1991, vol. 87, no. 1, pp. 81–83.

    Article  CAS  PubMed  Google Scholar 

  2. Testart, J., Gautier, E., Brami, C., et al., Intracytoplasmic sperm injection in infertile patients with structural chromosome abnormalities, Hum. Reprod., 1996, vol. 11, no. 12, pp. 2609–2612.

    Article  CAS  PubMed  Google Scholar 

  3. Therman, E., Susman, B., and Denniston, C., The nonrandom participation of human acrocentric chromosomes in Robertsonian translocations, Ann. Hum. Genet., 1989, vol. 53, no. 1, pp. 49–65.

    Article  CAS  PubMed  Google Scholar 

  4. Ravel, C., Berthaut, I., Bresson, J.L., and Siffori, J.P., Prevalence of chromosomal abnormalities in phenotypically normal and fertile adult males: large-scale survey of over 10000 sperm donor karyotypes, Hum. Reprod., 2007, vol. 21, no. 6, pp. 1484–1489.

    Article  Google Scholar 

  5. Luciani, J.M., Guichaoua, M.R., Mattei, A., and Morazzani, M.R., Pachytene analysis of a man with a 13q; 14q translocation and infertility, Cytogenet. Cell Genet., 1984, vol. 38, no. 1, pp. 14–22.

    Article  CAS  PubMed  Google Scholar 

  6. Vidal, F., Templado, C., Navarro, J., et al., Meiotic and synaptonemal complexes studies in a 14/21 translocation carrier, Int. J. Androl., 1982, vol. 5, no. 1, pp. 21–26.

    Article  CAS  PubMed  Google Scholar 

  7. Mahjoub, M., Mehdi, M., Brahem, S., et al., Chromosomal segregation in spermatozoa of five Robertsonian translocation carriers t(13; 14), J. Assoc. Reprod. Genet., 2011, vol. 28, no. 7, pp. 607–613.

    Article  Google Scholar 

  8. Ogur, J., Van Assche, E., Vegetti, W., et al., Chromosomal segregation in spermatozoa of 14 Robertsonian translocation carriers, Mol. Hum. Reprod., 2006, vol. 12, no. 3, pp. 209–215.

    Article  CAS  PubMed  Google Scholar 

  9. An International System for Human Cytogenetic Nomenclature 2009/Standing Committee on Human Cytogenetic Nomenclature, Basel: Karger, 2009.

  10. World Health Organization. WHO Manual for the Examination and Processing of Human Semen, Cambridge Univ. Press, 2000, 5th ed.

  11. Matirn, R.H., Cytogenetic analysis of sperm from male heterozygous for a 13;14 Robertsonian translocation, Hum. Genet., 1988, vol. 80, no. 4, pp. 357–361.

    Article  Google Scholar 

  12. Ogawa, S., Araki, S., Araki, Y., et al., Chromosome analysis of human spermatozoa from an oligoasthenozoospermic carrier for a 13;14 Robertsonian translocation by their injection into mouse oocyte, Hum. Reprod., 2000, vol. 15, no. 5, pp. 1136–1139.

    Article  CAS  PubMed  Google Scholar 

  13. Anton, E., Vidal, F., and Blanco, J., Role of sperm fish studies in the genetic reproductive advice of structural reorganization carriers, Hum. Reprod., 2007, vol. 22, no. 8, pp. 2088–2092.

    Article  CAS  PubMed  Google Scholar 

  14. Moradkhani, K., Puechberty, J., Bhatt, S., et al., Rare Robertsonian translocations and meiotic behaviour: sperm fish analysis of t(13;15) and t(14;15) translocations: a case report, Hum. Reprod., 2006, vol. 21, no. 12, pp. 3193–3198.

    Article  CAS  PubMed  Google Scholar 

  15. Hatakeyama, C., Gao, H., Harmer, K., and Ma, S., Meiotic segregation patterns and ICSI pregnancy outcome of a rare (13;21) Robertsonian translocation carrier: a case report, Hum. Reprod., 2006, vol. 21, no. 4, pp. 976–979.

    Article  CAS  PubMed  Google Scholar 

  16. Ferfouri, F., Selva, J., Boitrelle, F., et al., The chromosomal risk in sperm from heterozygous Robertsonian translocation carriers is related to the sperm count and the translocation type, Fertil. Steril., 2011, vol. 96, no. 6, pp. 1337–1343.

    Article  PubMed  Google Scholar 

  17. Anton, E., Blanco, J., Egozcue, J., and Vidal, F., Sperm fish studies in seven male carriers of Robertsonian translocation t(13;14)(q10;q10), Hum. Reprod., 2004, vol. 19, no. 6, pp. 1345–1351.

    Article  CAS  PubMed  Google Scholar 

  18. Escudero, T., Lee, M., Carrel, D., et al., Analysis of chromosome abnormalities in sperm and embryos from two 45,XY,t(13;14)(q10;q10) carriers, Prenatal Diagn., 2000, vol. 20, no. 7, pp. 599–602.

    Article  CAS  Google Scholar 

  19. Frydman, N. and Romana, S., Le Lorc’h, M., et al., Assisting reproduction of infertile men carrying a Robertsonian translocation, Hum. Reprod., 2001, vol. 16, no. 11, pp. 2274–2277.

    Article  CAS  PubMed  Google Scholar 

  20. Morel, F., Roux, C., and Bresson, J.L., Fish analysis of the chromosomal status of spermatozoa from three men with 45,XY,der(13;14)(q10;q10) karyotype, Mol. Hum. Reprod., 2001, vol. 7, no. 5, pp. 483–488.

    Article  CAS  PubMed  Google Scholar 

  21. Kekesi, A., Erdei, E., Torok, M., et al., Segregation of chromosomes in spermatozoa of four Hungarian translocation carriers, Fertil. Steril., 2007, vol. 88, no. 1, pp. 5–11.

    Article  Google Scholar 

  22. Perrin, A., Caer, E., Oliver-Bonet, M., et al., DNA fragmentation and meiotic segregation in sperm of carriers of a chromosomal structural abnormality, Fertil. Steril., 2009, vol. 92, no. 2, pp. 583–589.

    Article  PubMed  Google Scholar 

  23. Cassuto, N.G., Foll, N.L., Chantot-Bastaraud, S., et al., Sperm fluorescence in situ hybridization study in nine men carrying a Robertsonian or a reciprocal translocation: relationship between segregation modes and high-magnification sperm morphology examination, Fertil. Steril., 2011, vol. 96, no. 4, pp. 836–832.

    Article  Google Scholar 

  24. Sybenga, J., in General Cytogenetics, Sybenga, J., Ed., Amsterdam: North-Holland Publ., 1975, pp. 165–212.

  25. Eaker, S., Pyle, A., Cobb, J., and Handel, M.A., Evidence for meiotic spindle checkpoint from analysis of spermatocytes from Robertsonian-chromosome heterozygous mice, J. Cell Sci., 2001, vol. 114, no. 16, pp.2953–2965.

    CAS  PubMed  Google Scholar 

  26. Brugnon, S., Janny, L., Communal, Y., et al., Apoptosis and meiotic segregation in ejaculated sperm from Robertsonian translocation carrier patients, Hum. Reprod., 2010, vol. 25, no. 7, pp. 1–12.

    Article  Google Scholar 

  27. Scriven, P.N., Flinter, F.A., Braude, R.P., and Ogilvie, C.M., Robertsonian translocations—reproductive risks and indications for preimplantation genetic diagnosis, Hum. Reprod., 2001, vol. 16, no. 11, pp. 2267–2273.

    Article  CAS  PubMed  Google Scholar 

  28. Stengel-Rutkowski, S., Stene, J., and Gallano, P., Risk Estimates in Balanced Parental Reciprocal Translocations, Paris: Expansion Scientifique Francaise, 1988.

    Google Scholar 

  29. Munne, S., Escudero, T., Sandalinas, M., et al., Gamete segregation in female carriers of Robertsonian translocations, Cytogenet. Cell Genet., 2000, vol. 90, nos. 3/4, pp. 303–308.

    CAS  PubMed  Google Scholar 

  30. Ko, D.S., Cho, J.V., Lee, H.S., et al., Preimplantation genetic diagnosis outcomes and meiotic segregation analysis of Robertsonian translocation carriers, Fertil. Steril., 2013, no. 5, pp. 1369–1376.

    Google Scholar 

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Authors and Affiliations

  1. Center of Molecular and Cell Research, National University of Kyiv-Mohyla Academy, ul. Grigoriya Skovorody 2, Kyiv, 04655, Ukraine

    L. Y. Pylyp & N. M. Bilko

  2. Clinic of Reproductive Medicine “Nadiya”, ul. Maksima Krivonosa 19, Kyiv, 01025, Ukraine

    L. A. Spinenko & V. D. Zukin

Authors
  1. L. Y. Pylyp
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  2. L. A. Spinenko
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  3. V. D. Zukin
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  4. N. M. Bilko
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Correspondence to L. Y. Pylyp.

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Original Russian Text © L.Y. Pylyp, L.A. Spinenko, V.D. Zukin, N.M. Bilko, 2014, published in Tsitologiya i Genetika, 2014, Vol. 48, No. 3, pp. 48–53.

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Pylyp, L.Y., Spinenko, L.A., Zukin, V.D. et al. Meiotic segregation of chromosomes 13 and 14 in sperm of heterozygous Robertsonian translocation der(13;14)(q10;q10) carriers. Cytol. Genet. 48, 175–179 (2014). https://doi.org/10.3103/S0095452714030086

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  • DOI: https://doi.org/10.3103/S0095452714030086

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