A rare Y-autosome translocation found in a patient with nonobstructive azoospermia: Case report. (4th July 2021)

• Record Type: Journal Article
• Authors: Barišić, Anita; Buretić Tomljanović, Alena; Starčević Čizmarević, Nada; Ostojić, Saša; Romac, Pavle; Vraneković, Jadranka
• Is Part Of: Systems biology in reproductive medicine. Volume 67:Number 4(2021)
• Page Start: 307
• Page End: 313
• Publication Date: 2021-07-04
• Subjects: Azoospermia -- balanced translocation -- genetic counseling -- male infertility -- microdeletion; Systems biology -- Periodicals; Andrology -- Periodicals; Generative organs, Male -- Diseases -- Periodicals; Biological systems -- Periodicals; Reproductive health -- Periodicals; Human reproduction -- Periodicals; 612.61
• DOI: 10.1080/19396368.2021.1898701
• Languages: English
• ISSNs: 1939-6368

Abstract

ABSTRACT: Y‑autosome translocations are relatively uncommon in humans, with t(Y;1) stated to be even rarer. On the contrary, pericentric inversion 9 is the most commonly seen inversion of chromosome . Although considered to have no significant effect on male fertility, the literature reporting on reproductive risks for both aberrations remains controversial. We report here, as far as we know, the first case of a unique combination of balanced reciprocal translocation t(Y;1) with pericentric inversion of chromosome 9 in a patient with nonobstructive azoospermia (NOA) and an otherwise normal phenotype. Our patient was a 37-year-old Caucasian male sent to our Department due to azoospermia reported by semen analysis. The cytogenetic analysis revealed a balanced reciprocal translocation including chromosomes Y and 1 in all observed metaphases: 46, X, t(Y;1)(q12;q21) and a pericentric inversion of chromosome 9: inv(9)(p12q13). By performing metaphase FISH, the t(Y;1) translocation was confirmed. By means of multiplex-PCR, no Y-chromosome microdeletions were detected in the AZF regions. This report demonstrates a unique karyotype showing balanced reciprocal translocation t(Y;1)(q12;q21) with pericentric inversion 9: inv(9)(p12q13), in a patient with NOA, and highlights the importance of appropriate genetic counseling for patients with regard to the medical management of balanced chromosomal aberrations.