prikaz prve stranice dokumenta A rare Y-autosome translocation found in a patient with nonobstructive azoospermia: Case report
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Scientific paper - Case study
A rare Y-autosome translocation found in a patient with nonobstructive azoospermia: Case report
Systems Biology in Reproductive Medicine, 67 (2021), 4; 307-313. https://doi.org/10.1080/19396368.2021.1898701
Barišić, Anita; Buretić Tomljanović, Alena; Starčević Čizmarević, Nada; Ostojić, Saša; Romac, Pavle; Vraneković, Jadranka

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Barišić, A., Buretić Tomljanović, A., Starčević Čizmarević, N., Ostojić, S., Romac, P. & Vraneković, J. (2021). A rare Y-autosome translocation found in a patient with nonobstructive azoospermia: Case report. Systems Biology in Reproductive Medicine, 67. (4), 307-313. doi: 10.1080/19396368.2021.1898701

Barišić, Anita, et al. "A rare Y-autosome translocation found in a patient with nonobstructive azoospermia: Case report." Systems Biology in Reproductive Medicine, vol. 67, no. 4, 2021, pp. 307-313. https://doi.org/10.1080/19396368.2021.1898701

Barišić, Anita, Alena Buretić Tomljanović, Nada Starčević Čizmarević, Saša Ostojić, Pavle Romac and Jadranka Vraneković. "A rare Y-autosome translocation found in a patient with nonobstructive azoospermia: Case report." Systems Biology in Reproductive Medicine 67, no. 4 (2021): 307-313. https://doi.org/10.1080/19396368.2021.1898701

Barišić, A., et al. (2021) 'A rare Y-autosome translocation found in a patient with nonobstructive azoospermia: Case report', Systems Biology in Reproductive Medicine, 67(4), pp. 307-313. doi: 10.1080/19396368.2021.1898701

Barišić A, Buretić Tomljanović A, Starčević Čizmarević N, Ostojić S, Romac P, Vraneković J. A rare Y-autosome translocation found in a patient with nonobstructive azoospermia: Case report. Systems Biology in Reproductive Medicine [Internet]. 2021 May 06 [cited 2024 April 28];67(4):307-313. doi: 10.1080/19396368.2021.1898701

A. Barišić, A. Buretić Tomljanović, N. Starčević Čizmarević, S. Ostojić, P. Romac and J. Vraneković, "A rare Y-autosome translocation found in a patient with nonobstructive azoospermia: Case report", Systems Biology in Reproductive Medicine, vol. 67, no. 4, pp. 307-313, May 2021. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:184:063598. [Accessed: 28 April 2024]

Metadata
Title (english)A rare Y-autosome translocation found in a patient with nonobstructive azoospermia: Case report
AuthorAnita Barišić
AuthorAlena Buretić Tomljanović
AuthorNada Starčević Čizmarević
AuthorSaša Ostojić
AuthorPavle Romac
AuthorJadranka Vraneković
Author's institutionUniversity of Rijeka
Faculty of Medicine
(Department of Biology and Medical Genetics)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Basic Medical Sciences
Human Genetics, Genomics and Proteomics
Abstract (english)
ABSTRACT INTRODUCTION 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 (english)
Languageenglish
Publication typeScientific paper - Case study
Publication statusPublished
Peer reviewPeer review - international
Publication versionPublished version
Journal titleSystems Biology in Reproductive Medicine
Numberingvol. 67, no. 4, pp. 307-313
p-ISSN1939-6368
e-ISSN1939-6376
DOIhttps://doi.org/10.1080/19396368.2021.1898701
URN:NBNurn:nbn:hr:184:063598
Publication2021-05-06
Document URLhttps://www.tandfonline.com/doi/full/10.1080/19396368.2021.1898701
Type of resourceText
Access conditionsInstitutional access
Terms of useLicence In copyright icon
Created on2022-02-08 12:53:06