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

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

References

1. 1. DÜNDAR M, editor. Tibbi Genetik ve Klinik Uygulamaları. Akademisyen Kitabevi; 2016.
2. 2. Sago H. Prenatal diagnosis of chromosomal abnormalities through amniocentesis. J Mamm Ova Res. 2004;21(1):18–21.
3. 3. Gallagher JA, Ranganath LR, Zatkova A. Alkaptonuria. In: Maloy S, Hughes K, editors. Brenner’s Encyclopedia of Genetics [Internet]. 2nd ed. Elsevier Science; 2013. p. 71–5. Available from: https://books.google.com.tr/books?id=4cj64BhrnjcC
4. 4. Dündar M. KROMOZOM YAPI, ORGANİZASYONU VE SİTOGENETİK ANALİZLER. In: Tıbbi Genetik ve Klinik Uygulamaları. 1st ed. 2016. p. 134.
5. 5. Suganya J. Chromosomal Abnormalities in Infertile Men from Southern India. J Clin DIAGNOSTIC Res [Internet]. 2015; Available from: http://jcdr.net/article_fulltext.asp?issn=0973-709x&year=2015&volume=9&issue=7&page=GC05&issn=0973-709x&id=6247
6. 6. EROL D, YÜCE H. Oligospermik İnfertil Bir Erkekte Resiprokal Translokasyon t(1;5)(p33;qter). 2009. p. 204–6.
7. 7. Mcinnes RR, Nusbaum RL, Willard HF. Tıbbi Genetik. 6th ed. 2005. 17–32, 135–155, 157–178 p.
8. 8. Tobias ES, Connor M, Ferguson-Smith M. Tıbbi Genetiğin Esasları. 1st ed. Uğur Ö, editor. İstanbul Tıp Kitabevi; 2014. 9. Morel F, Douet-Guilbert N, Le Bris MJ, Herry A, Amice V, Amice J, et al. Meiotic segregation of translocations during male gametogenesis. International Journal of Andrology. 2004.

9. 10. Krausz C, Hoefsloot L, Simoni M, Tüttelmann F. EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: State-of-the-art 2013. Andrology. 2014.
10. 11. Shah K, Sivapalan G, Gibbons N, Tempest H, Griffin D. The genetic basis of infertility. Reproduction [Internet]. 2003 Jul 1;13–25. Available from: https://rep.bioscientifica.com/view/journals/rep/126/1/13.xml
11. 12. Franssen MTM, Korevaar JC, van der Veen F, Leschot NJ, Bossuyt PMM, Goddijn M. Reproductive outcome after chromosome analysis in couples with two or more miscarriages: case-control study. BMJ [Internet]. 2006 Apr 1;332(7544):759–63. Available from: https://www.bmj.com/lookup/doi/10.1136/bmj.38735.459144.2F
12. 13. Burrello N, Vicari E, Calogero AE. Chromosome abnormalities in spermatozoa of patients with azoospermia and normal somatic karyotype. Cytogenet Genome Res [Internet]. 2005;111(3–4):363–5. Available from: https://www.karger.com/Article/FullText/86912