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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. i 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, br. 4, 2021, str. 307-313. https://doi.org/10.1080/19396368.2021.1898701

Barišić, Anita, Alena Buretić Tomljanović, Nada Starčević Čizmarević, Saša Ostojić, Pavle Romac i Jadranka Vraneković. "A rare Y-autosome translocation found in a patient with nonobstructive azoospermia: Case report." Systems Biology in Reproductive Medicine 67, br. 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), str. 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]. 06.05.2021. [pristupljeno 21.10.2024.];67(4):307-313. doi: 10.1080/19396368.2021.1898701

A. Barišić, A. Buretić Tomljanović, N. Starčević Čizmarević, S. Ostojić, P. Romac i J. Vraneković, "A rare Y-autosome translocation found in a patient with nonobstructive azoospermia: Case report", Systems Biology in Reproductive Medicine, vol. 67, br. 4, str. 307-313, Svibanj 2021. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:184:063598. [Citirano: 21.10.2024.]

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Naslov (engleski)A rare Y-autosome translocation found in a patient with nonobstructive azoospermia: Case report
AutorAnita Barišić
AutorAlena Buretić Tomljanović
AutorNada Starčević Čizmarević
AutorSaša Ostojić
AutorPavle Romac
AutorJadranka Vraneković
Autorova ustanovaSveučilište u Rijeci
Medicinski fakultet
(Katedra za medicinsku biologiju i genetiku)
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Temeljne medicinske znanosti
Genetika, genomika i proteomika čovjeka
Sažetak (engleski)
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.
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Prikaz slučaja
Status objaveObjavljen
Vrsta recenzijeRecenziran - međunarodna recenzija
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaSystems Biology in Reproductive Medicine
Brojčani podacivol. 67, br. 4, str. 307-313
p-ISSN1939-6368
e-ISSN1939-6376
DOIhttps://doi.org/10.1080/19396368.2021.1898701
URN:NBNurn:nbn:hr:184:063598
Datum objave publikacije2021-05-06
URL dokumentahttps://www.tandfonline.com/doi/full/10.1080/19396368.2021.1898701
Vrsta resursaTekst
Prava pristupaInstitucijski pristup
Uvjeti korištenjaIkona licence Zaštićeno autorskim pravom.
Datum i vrijeme pohrane2022-02-08 12:53:06