A Rare Abnormal Male Karyotype with 46,X,DER(Y)(YQTER→P11.3::2Q2.1→QTER),DEL(2)(2PTER→11.3:)

Authors : Diclehan Oral, Mahmut Balkan, Selahattin Tekeş, Ilyas Yücel, Gülbahar Güzel Erdal, Mahir Binici, Fikriye Fulya Kavak

Pages : 42-46

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Publication Date : 2021-06-30

Article Type : Other

Abstract :Objective: Structural chromosomal abnormalities such as translocation in males and y deletions in the molecular missile cause infertility and related azoospermia. The aim of this study was to perform the karyotype analysis of a 51-year-old male patient who was referred to Dicle University Faculty of Medicine, Department of Medical Biology and Genetics for karyotype analysis due to primary infertility. Methods: Chromosome analysis was performed in peripheral blood culture by applying the conventional cytogenetic method and GTG banding technique. Results: Chromosome analysis a rare abnormal karyotype with 46, X, der(Y) (Yqter→p11.3::2q2.1→qter), del(2pte2q 11.3:) chromosomal structure was observed. In thıs study, we report a case with a balanced translocation between chromosomes 2 and Y. Conclusion: The causes leading to male infertility maybe later, and some of them are of genetic origin. While chromosomal abnormalities are seen in 0.5% of the healthy population, this rate increases to 5.8% in infertile men, so it is recommended to genetically investigate all individuals with azoospermia in semen analysis.
Keywords : balanced translocation, chromosome anomalies, infertility