Balanced translocations 46, XY, t (8;17)(p23;q11) in brothers with azoospermia
1 Center of Genetics, Faculty of Medicine, University of Sarajevo, Bosnia and Herzegovina.
2 Faculty of Medicine, University of Sarajevo, Bosnia and Herzegovina.
3 Department of Biology, Veterinary Faculty, University of Sarajevo, Sarajevo, Bosnia and Herzegovina.
Case Study
GSC Advanced Research and Reviews, 2021, 07(01), 091–093.
Article DOI: 10.30574/gscarr.2021.7.1.0077
Publication history:
Received on 08 March 2021; revised on 12 April 2021; accepted on 14 April 2021
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.
Keywords:
Azoospermia; Balanced translocation; Karyotype
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