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Journal Articles Journal of Assisted Reproduction and Genetics Year : 2019

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

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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).

Dates and versions

inserm-03780478 , version 1 (19-09-2022)

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Lucie Pierron, Alexandra Irrmann, Aliénor de Chalus, Adrien Bloch, Solveig Heide, et al.. Double chromosomal translocation in an infertile man: one-step FISH meiotic segregation analysis and reproductive prognosis. Journal of Assisted Reproduction and Genetics, 2019, 36 (5), pp.973-978. ⟨10.1007/s10815-019-01430-z⟩. ⟨inserm-03780478⟩
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