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A novel male 2;4;14 complex chromosomal translocation with normal semen parameters but 100% embryonic aneuploidy

  • Genetics
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Abstract

We report a case of a couple with a history of six spontaneous miscarriages in which a novel complex chromosomal rearrangement was detected in the male partner who had a totally normal semen analysis. Preimplantation genetic testing of their embryos demonstrated 100% aneuploidy.

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References

  1. Trpchevska N. A family study of complex chromosome rearrangement involving chromosomes 1, 8, and 11 and its reproductive consequences. J Assist Reprod Genet. 2017;34(5):659–69.

    Article  PubMed  PubMed Central  Google Scholar 

  2. Madan K, et al. Recombination in a balanced complex translocation of a mother leading to a balanced translocation in the child. Review of 60 cases of balanced complex translocations. Hum Genet. 1997;99(6):806–15.

    Article  PubMed  CAS  Google Scholar 

  3. Yaping L, Chunjing W, Meng L, Ziaomei H, Qi W. Analysis of genetic characteristics and reproductive risks of balanced complex chromosome rearrangement carriers in China. Yi Chuan. 2017;39(5):396–412.

    Google Scholar 

  4. Lathi RB, Westphal LM, Milki AA. Aneuploidy in the miscarriages of infertile women and the potential benefit of preimplantation genetic diagnosis. Fertil Steril. 2008;89(2):353–7.

    Article  PubMed  Google Scholar 

  5. Nonaka T, Ooki I, Enomoto T, Takakuwa K. Complex chromosomal rearrangements in couples affected by recurrent spontaneous abortion. Int J Gynaecol Obstet. 2015;128(1):36–9.

    Article  PubMed  CAS  Google Scholar 

  6. Bartels I, Starke H, Argyriou L, Sauter SM, Zoll B, Liehr T. An exceptional complex chromosomal rearrangement (CCR) with eight breakpoints involving four chromosomes (1;3;9;14) in an azoospermic male with normal phenotype. Eur J Med Genet. 2007;50(2):133–8.

    Article  PubMed  Google Scholar 

  7. Yoshida A, Miura K, Shirai M. Cytogenetic survey of 1,007 infertile males. Urol Int. 1997;58:166–76.

    Article  PubMed  CAS  Google Scholar 

  8. Chandley AC. Chromosome anomalies and Y chromosome microdeletions as causal factors in male infertility. Hum Reprod. 1998;13(Suppl1):45–50.

    Article  PubMed  CAS  Google Scholar 

  9. Bojesen A, Gravhold CH. Klinefelter syndrome in clinical practice. Nat Clin Pract Urol. 2007;4:192–204.

    Article  PubMed  Google Scholar 

  10. Skakkebaek NE, Hulten M, Jacobsen P, et al. Quantification of human seminiferous epithelium. II. Histological studies in eight 47,XYY men. J Reprod Fertil. 1973;32(3):391–401.

    Article  PubMed  CAS  Google Scholar 

  11. Gonzalez-Merino E, Hans C, Abramowicz M, et al. Aneuploidy study in sperm and preimplantation embryos from nonmosaic 47,XYY men. Fertil Steril. 2007;88(3):600–6.

    Article  PubMed  Google Scholar 

  12. Dong Y, Du RC, Jiang YT, Wu J, Li LL, Liu RZ. Impact of chromosomal translocations on male infertility, semen quality, testicular volume and reproductive hormone levels. Adv Exp Med Biol. 2014;791:27–52.

    Article  Google Scholar 

  13. Zhang X, Zhang H, Hu C, Wang R, Xi Q, Liu R. Clinical features of carriers of reciprocal chromosomal translocations involving chromosome 2: report of nine cases and review of the literature. Int Braz J Urol. 2017;11:43.

    Google Scholar 

  14. Zhang HG, Wang RX, Pan Y, Zhu JH, Xue LT, Yang X, Liu RZ. Translocation breakpoints of chromosome 1 in male carriers: clinical features and implications for genetic counseling. Genet Mol Res. 2016;15(4).

  15. Moradkhani K, Puechberty J, Bhatt S, Lespinasse J, Vago P, Lefort G, 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;21(12):3193–8.

    Article  PubMed  CAS  Google Scholar 

  16. Moradkhani K, Puechberty J, Bhatt S, Vago P, Janny L, Lefort G, et al. Meiotic segregation of rare Robertsonian translocations: sperm analysis of three t(14q;22q) cases. Hum Reprod. 2006;21(5):1166–71.

    Article  PubMed  CAS  Google Scholar 

  17. Grasshoff U, Singer S, Liehr T, Starke H, Fode B, Schöning M, et al. A complex chromosomal rearrangement with a translocation 4;10;14 in a fertile male carrier: ascertainment through an offspring with partial trisomy 14q13-->q24.1 and partial monosomy 4q27-->q28 [corrected]. Cytogenet Genome Res. 2003;103(1–2):17–23.

    Article  PubMed  CAS  Google Scholar 

  18. Pellestor F, Anahory T, Lefort G, Puechberty J, Liehr T, Hedon B, et al. Complex chromosomal rearrangements: origin and meiotic behavior. Hum Reprod Update. 2011;17(4):476–94.

    Article  PubMed  CAS  Google Scholar 

  19. Kim JW, Chang EM, Song SH, Park SH, Yoon TK, Shim SH. Complex chromosomal rearrangements in infertile males: complexity of rearrangements affects spermatogenesis. Fertil Steril. 2011;95(1):349–52.

    Article  PubMed  CAS  Google Scholar 

  20. Madam K. Balanced complex chromosome rearrangements: reproductive aspects. A review. Am J Med Genet. 2011;158A:947–63.

    Article  CAS  Google Scholar 

  21. Frumkin T, Peleg S, Gold V, Reches A, Asaf S, Azem F, et al. Complex chromosomal rearrangement-a lesson learned from PGS. J Assist Reprod Genet. 2017;34:1095–100.

    Article  PubMed  PubMed Central  Google Scholar 

  22. Lim CK, Cho JW, Kim JY, Kang IS, Shim SH, Jun JH. A healthy live birth after successful preimplantation genetic diagnosis for carrier of complex chromosome rearrangements. Fertil Steril. 2008;90(5):1680–4.

    Article  PubMed  Google Scholar 

  23. Chen YJ, Zhang WW, Wu YH, Sun XM, Bao H, Hu CJ. Characteristics of complex chromosomal rearrangement in Chinese male carriers and its impact on male fertility. Zhonghua Nan Ke Xue. 2014;20(12):1120–5.

    PubMed  Google Scholar 

  24. Scriven PN, Bint SM, Davies AF, Ogilvie CM. Meiotic outcomes of three-way translocations ascertained in cleavage-stage embryos: refinement of reproductive risks and implications for PGD. Eur J Hum Genet. 2014;22:748–53.

    Article  PubMed  CAS  Google Scholar 

  25. Scriven PN, Flinter FA, Khalaf Y, Lashwood A, Mackie OC. Benefits and drawbacks of preimplantation genetic diagnosis (PGD) for reciprocal translocations: lessons from a prospective cohort study. Eur J Hum Genet. 2013;21:1035–41.

    Article  PubMed  PubMed Central  Google Scholar 

  26. Stephenson MD, Sierra S. Reproductive outcomes in recurrent pregnancy loss associated with a parental carrier of a structural chromosome rearrangement. Hum Reprod. 2006;21:1076–82.

    Article  PubMed  Google Scholar 

  27. Kolte AM, van Oppenraaij RH, Quenby S, Farquharson R, Stephenson M, Goddijn M, et al. Non-visualized pregnancy losses are prognostically important for unexplained miscarriage. Hum Reprod. 2014;29:932–7.

    Article  Google Scholar 

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Correspondence to Silvina Bocca.

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Mas, J., Sabouni, R. & Bocca, S. A novel male 2;4;14 complex chromosomal translocation with normal semen parameters but 100% embryonic aneuploidy. J Assist Reprod Genet 35, 907–912 (2018). https://doi.org/10.1007/s10815-018-1126-4

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  • DOI: https://doi.org/10.1007/s10815-018-1126-4

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