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J Assist Reprod Genet ; 36(5): 973-978, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30850901

RESUMO

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).


Assuntos
Segregação de Cromossomos , Cromossomos Humanos/genética , Hibridização in Situ Fluorescente/métodos , Infertilidade Masculina/diagnóstico , Meiose , Espermatozoides/patologia , Translocação Genética , Adulto , Feminino , Humanos , Infertilidade Masculina/genética , Cariotipagem , Masculino , Gravidez , Prognóstico , Espermatozoides/metabolismo
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