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Double chromosomal translocation in an infertile man: one-step FISH meiotic segregation analysis and reproductive prognosis

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

Abstract

Background

The prevalence of chromosomal translocations is 1/500 in the general population. While in the vast majority of cases, carriers have a normal phenotype; they can present with difficulty conceiving due to the presence of a proportion of unbalanced gametes as a consequence of abnormal chromosomal segregation during meiosis. Since complex translocations involve three or more chromosomes, meiotic segregation leads to a greater number of possible combinations which effectively complicate both their study and therapeutic care.

Case presentation

We report on the case of a male carrier of a complex homogeneous double Robertsonian translocation: 44, XY, der(13;14)(q10;q10),der(21;22)(q10;q10). We studied his meiotic segregation by FISH on spermatozoa from the initial sample, as well as following discontinuous gradient centrifugation and after incubation in an hypo-osmotic solution.

Conclusion

We report a method to study in a simple single-step manner the meiotic segregation of double Robertsonian translocations in spermatozoa. Further, our results suggest that reproductive prognosis of affected individuals may be markedly improved by HOST-based sperm selection (HBSS).

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References

  1. McKinslay G, Sutherland C. Abnormalities and genetic counseling. 4th ed. USA, chapters 4 & 6: Oxford University Press; 2011.

    Google Scholar 

  2. Lamotte A, Martinez G, Devillard F, Hograindleur J-P, Satre V, Coutton C, et al. Is sperm FISH analysis still useful for Robertsonian translocations? Meiotic analysis for 23 patients and review of the literature. Basic Clin Androl. 2018;28:5.

    Article  PubMed  PubMed Central  Google Scholar 

  3. Rouen A, Balet R, Dorna M, Hyon C, Pollet-Villard X, Chantot-Bastaraud S, et al. Discontinuous gradient centrifugation (DGC) decreases the proportion of chromosomally unbalanced spermatozoa in chromosomal rearrangement carriers. Hum Reprod. 2013;28:2003–9.

    Article  CAS  PubMed  Google Scholar 

  4. Rouen A, Carlier L, Heide S, Egloff M, Marzin P, Ader F, et al. Potential selection of genetically balanced spermatozoa based on the hypo-osmotic swelling test in chromosomal rearrangement carriers. Reprod BioMed Online. 2017;35:372–8.

    Article  PubMed  Google Scholar 

  5. 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;111:291–6.

    Article  CAS  PubMed  Google Scholar 

  6. 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;21:3193–8.

    Article  CAS  PubMed  Google Scholar 

  7. Loup V, Bernicot I, Janssens P, Hedon B, Hamamah S, Pellestor F, et al. Combined FISH and PRINS sperm analysis of complex chromosome rearrangement t(1;19;13): an approach facilitating PGD. Mol Hum Reprod. 2010;16:111–6.

    Article  CAS  PubMed  Google Scholar 

  8. Pellestor F, Puechberty J, Weise A, Lefort G, Anahory T, Liehr T, et al. Meiotic segregation of complex reciprocal translocations: direct analysis of the spermatozoa of a t(5;13;14) carrier. Fertil Steril. 2011;95:2433.e17–22.

    Article  CAS  Google Scholar 

  9. Godo A, Blanco J, Vidal F, Parriego M, Boada M, Anton E. Sequential FISH allows the determination of the segregation outcome and the presence of numerical anomalies in spermatozoa from a t(1;8;2)(q42;p21;p15) carrier. J Assist Reprod Genet. 2013;30:1115–23.

    Article  PubMed  PubMed Central  Google Scholar 

  10. Juchniuk de Vozzi MS, Santos SA, Pereira CS, Cuzzi JF, Laureano LA, Franco JG, et al. Meiotic segregation and interchromosomal effect in the sperm of a double translocation carrier: a case report. Mol Cytogenet. 2009;2:24.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  11. Ferfouri F, Boitrelle F, Clement P, Molina Gomes D, Selva J, Vialard F. Sperm FISH analysis of a 44,X,der(Y),t(Y;15)(q12;q10)pat,rob(13;14)(q10;q10)mat complex chromosome rearrangement. Andrologia. 2014;46:576–82.

    Article  CAS  PubMed  Google Scholar 

  12. Burns JP, Koduru PR, Alonso ML, Chaganti RS. Analysis of meiotic segregation in a man heterozygous for two reciprocal translocations using the hamster in vitro penetration system. Am J Hum Genet. 1986;38:954–64.

    CAS  PubMed  PubMed Central  Google Scholar 

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Authors and Affiliations

  1. Département de Génétique Médicale, Assistance Publique-Hôpitaux de Paris, Hôpital Armand Trousseau, Unité INSERM 933, 26 avenue du Dr Arnold Netter, 75012, Paris, France

    Lucie Pierron, Alexandra Irrmann, Aliénor de Chalus, Adrien Bloch, Solveig Heide, Eli Rogers, Jean-Pierre Siffroi & Alexandre Rouen

  2. Service d’Assistance Médicale à la Procréation, Maternité des Bluets, 4 rue Lasson, 75012, Paris, France

    Nathalie Lédée & Laura Prat-Ellenberg

  3. Service de Cytogénétique, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, 27 rue du Faubourg Saint Jacques, 75014, Paris, France

    Aurélie Coussement & Jean-Michel Dupont

  4. Sorbonne Paris Cité, Faculté de Médecine, Université Paris Descartes, Paris, France

    Aurélie Coussement & Jean-Michel Dupont

  5. Laboratoire Drouot, 21 rue Drouot, 75009, Paris, France

    Nino Guy Cassuto

Authors
  1. Lucie Pierron
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  2. Alexandra Irrmann
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  3. Aliénor de Chalus
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  4. Adrien Bloch
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  5. Solveig Heide
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  6. Eli Rogers
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  7. Nathalie Lédée
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  8. Laura Prat-Ellenberg
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  9. Aurélie Coussement
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  10. Jean-Michel Dupont
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  11. Nino Guy Cassuto
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  12. Jean-Pierre Siffroi
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  13. Alexandre Rouen
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Correspondence to Alexandre Rouen.

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Pierron, L., Irrmann, A., de Chalus, A. et al. Double chromosomal translocation in an infertile man: one-step FISH meiotic segregation analysis and reproductive prognosis. J Assist Reprod Genet 36, 973–978 (2019). https://doi.org/10.1007/s10815-019-01430-z

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  • DOI: https://doi.org/10.1007/s10815-019-01430-z

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