Balanced translocations 46, XY, t (8;17)(p23;q11) in brothers with azoospermia

Mirela Mačkić-Đurović; Nejla Đikić; Dunja Rukavina

doi:10.30574/gscarr.2021.7.1.0077

Authors

Mirela Mačkić-Đurović Center of Genetics, Faculty of Medicine, University of Sarajevo, Bosnia and Herzegovina.
Nejla Đikić Faculty of Medicine, University of Sarajevo, Bosnia and Herzegovina.
Dunja Rukavina Department of Biology, Veterinary Faculty, University of Sarajevo, Sarajevo, Bosnia and Herzegovina.

DOI:

https://doi.org/10.30574/gscarr.2021.7.1.0077

Keywords:

Azoospermia, Balanced translocation, Karyotype

Abstract

Infertility is one of the most significant human health problems of the reproductive years. The causes of infertility are diverse and numerous-including non-genetic and genetic factors.

A review of this case confirmed this. A balanced translocation was found in two siblings diagnosed with azoospermia. After being unable to conceive, the older brother and his wife had two in vitro fertilization (IVF) failed. At the same time, his younger brother and his wife had one IVF. After the cytogenetic analysis was performed in both pairs, it was shown that the cause of their infertility was the same balanced translocation in the brothers. The female showed a regular (46, XX) karyotype, whereas the male was found to carry balanced reciprocal translocation [46, XY, t(8;17)(p23;q11)].

This case support that cytogenetic analysis is still the first and basic diagnostic analysis of patients with azoospermia and other reproductive problems.

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