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Andrologia ; 46(4): 453-5, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-23738880

RESUMO

Infertility is a major health problem which affects approximately 22% of married couples in reproductive age. Chromosomal defects are the most common genetic abnormalities in infertile men, with an incidence of cytogenetic abnormalities ranging from 2.1% to 15.5%. We describe here the clinical and cytogenetic studies carried out in a couple with repeated abortions. Cytogenetic analysis of the couple showed a de novo chromosomal translocation t (2;11)(p14;q21) in the male partner and a normal 46, XX karyotype in the female counterpart. Such an autosomal translocation may lead to the disruption of genes responsible for spermatogenesis or impaired synaptic complex pairing during meiosis resulting in reproductive failure.


Assuntos
Cromossomos Humanos Par 11/genética , Infertilidade Masculina/genética , Oligospermia/genética , Translocação Genética , Aborto Espontâneo/genética , Adulto , Cromossomos Humanos Par 2/genética , Feminino , Humanos , Masculino , Gravidez
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