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- Title
Double chromosomal translocation in an infertile man: one-step FISH meiotic segregation analysis and reproductive prognosis.
- Authors
Pierron, Lucie; Irrmann, Alexandra; de Chalus, Aliénor; Bloch, Adrien; Heide, Solveig; Rogers, Eli; Lédée, Nathalie; Prat-Ellenberg, Laura; Coussement, Aurélie; Dupont, Jean-Michel; Cassuto, Nino Guy; Siffroi, Jean-Pierre; Rouen, Alexandre
- 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).
- Subjects
CHROMOSOMAL translocation; FISH spermatozoa; PROGNOSIS; GAMETES; CHROMOSOME segregation
- Publication
Journal of Assisted Reproduction & Genetics, 2019, Vol 36, Issue 5, p973
- ISSN
1058-0468
- Publication type
Article
- DOI
10.1007/s10815-019-01430-z