Double chromosomal translocation in an infertile man: one-step FISH meiotic segregation analysis and reproductive prognosis.
J Assist Reprod Genet
; 36(5): 973-978, 2019 May.
Article
em En
| MEDLINE
| ID: mdl-30850901
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).Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Espermatozoides
/
Translocação Genética
/
Cromossomos Humanos
/
Hibridização in Situ Fluorescente
/
Segregação de Cromossomos
/
Infertilidade Masculina
/
Meiose
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Adult
/
Female
/
Humans
/
Male
/
Pregnancy
Idioma:
En
Revista:
J Assist Reprod Genet
Assunto da revista:
GENETICA
/
MEDICINA REPRODUTIVA
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
França