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Am J Case Rep ; 21: e921616, 2020 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-32413022

RESUMO

BACKGROUND Translocations are the most common type of chromosomal structural anomalies. In balanced translocations, there is not an obvious loss of genetic material; they are usually phenotypically normal adults who present with reproductive issues. Male carriers of Robertsonian (ROB) translocation can have infertility and are shown to have abnormal semen analysis. Some patients have positive sperms in the ejaculate. Therefore, fertility management can be offered to couples to achieve pregnancy and delivery of healthy neonates. CASE REPORT We present 2 cases of 34- and 35-year-old males who presented to our tertiary care hospital because of primary infertility. Semen analysis showed nonobstructive cryptozoospermia and azoospermia, respectively. Genetic tests revealed ROB translocation (13;14). Fertility treatment was offered to both couples. CONCLUSIONS Males with ROB translocation can have positive sperms in the ejaculate. A multidisciplinary approach should be offered to the couples to help them achieve clinical pregnancy, reduce the risk of miscarriage, and increase the rates of delivery of healthy neonates.


Assuntos
Cromossomos Humanos Par 13 , Cromossomos Humanos Par 14 , Infertilidade Masculina/genética , Análise do Sêmen , Translocação Genética , Adulto , Fertilização in vitro/métodos , Aconselhamento Genético/psicologia , Humanos , Consentimento Livre e Esclarecido , Masculino
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