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

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

J Assist Reprod Genet

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

Published: May 2019

AI Article Synopsis

Article 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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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6541678PMC
http://dx.doi.org/10.1007/s10815-019-01430-zDOI Listing

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