A rare Y-autosome translocation found in a patient with nonobstructive azoospermia: Case report

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.

KEYWORDS:

• Azoospermia
• balanced translocation
• genetic counseling
• male infertility
• microdeletion

Acknowledgments

The authors are thankful for the cooperation of the patient and his family. Besides, they would like to express sincere gratitude to all laboratory technicians at the Department of Medical Biology and Genetics for their technical support.

Disclosure statement

The authors declare that they have no conflict of interest.

Ethical approval

All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from the patient before inclusion in the study.

Guidelines

Our report is in accordance with the CARE guideline available through the EQUATOR network (http://www.equator-network.org/) and COPE guidelines (http://publicationethics.org/).

Author's contributions

Conceptualization, methodology, critical review and editing of the draft, supervision: JV. Performing the experiments, data analysis: AB, NSČ, PR, participating in study design, validation, and revising the manuscript: ABT, SO. Writing – original draft: AB. All authors read and approved the final manuscript.

Availability of data and materials

The datasets used and/or analyzed during the current study are available from the corresponding author on reasonable request.

Additional information

Funding

none