Deniz EROL, Hüseyin YÜCE

Oligospermik infertil bir erkekte resiprokal translokasyon t(1;5)(p33;qter)

İnfertilite, çiftlerin yaklaşık %15'ini etkilemekte olup erkek faktörlü vakaların yaklaşık olarak yarısı oligospermi, azospermi gibi hatalı spermatogenezle ilişkilidir. İnfertil erkek hastalarda somatik kromozom anomali insidansının %2.2 ve 19.6 arasında olduğu rapor edilmiştir. Bu çalışmamızda, infertilite nedeniyle laboratuvarımıza gönderilen çiftte yapılan sitogenetik analiz sonuçları sunulmuştur. Kadında normal karyotip (46,XX), erkekte dengeli resiprokal translokasyon [46,XY,t(1;5)(p33;qter)] belirlenmiştir. Olguda var olan kromozomal düzensizliğin spermatogenezisi etkileyerek infertiliteye neden olduğu sonucuna vardık.

Reciprocal translocation t (1;5)(P33;Qter) in aq oligospermic infertile male

Infertility affects an estimated 15% of couples and in roughly half of cases male-related factors are involved, frequently associated with impaired spermatogenesis, e.g. oligospermia or azoospermia. The incidence of somatic chromosome anomalies in infertile male patients hase been reported between 2.2 and 19.6%. In this study, we present the results of a cytogenetic analysis performed on a couple, who were referred to our laboratory due to infertility. We found a normal karyotype (46,XX) in female, and balanced reciprocal translocation [46,XY,t(1;5)(p33;qter)] in the male. We deduced that chromosomal rearrangements in this case were caused infertility due to the interference with spermatogenesis.

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1) Bache I, Assche EV, Cingoz S, et al. An excess of chromosome 1 breakpoints in male infertility. Eur J Hum Genet 2004; 12:993- 1000.
2) Olesen C, Hansen C, Bendsen E, et al. Identification of human candidate genes for male infertility by digital differential display. Mol Hum Reprod 2001; 7(1):11-20.
3) Egozcue S, Blanco J, Vendrell JM, et al. Human male infertility: chromosome anomalies, meiotic disorders, abnormal spermatozoa and recurrent abortion. Hum Reprod Update 2000; 6(1):93-105.
4) Dohle GR, Halley DJ, Van Hemel JO, et al. Genetic risk factors in infertile men with severe oligozoospermia and azoospermia. Hum Reprod 2002; 17(1):13-6.
5) Quintana de la Rosa JL, Gallegos Avila G, Garcia Cavazos R, Zungri Telo E. Chromosomal translocation 3;22 in an infertile man. Fertil Steril 2001; 75(6):1222-3.
6) Sazci A, Ercelen N, Ergul E, Akpinar G. Male factor infertility associated with a familial translocation t(1;13)(q24;q10). Fertil Steril 2005; 83(5):1548-50.
7) Mark HF, Sigman M. Male infertility associated with a unique 8;22 translocation. Exp Mol Pathol 1999; 67(1):57-61.
8) Lorda-Sanchez I, Tejedor C, Sanz R, Rodriguez de Alba M, de la Fuente A, Fernandez E, Ayuso C, Ramos C. A maternal inherited translocation t(1;22)(q11;p11) in two infertile brothers. Genet Couns 2001; 12(1):95-100.