Journal of Assisted Reproduction and Genetics (2018) 35:1503–1508 https://doi.org/10.1007/s10815-018-1211-8 GENETICS An infertile azoospermic male with 45,X karyotype and a unique complex (Y;14); (Y;22) translocation: cytogenetic and molecular characterization 1 2 3 4 1 1 Mona K. Mekkawy & Ahmed M. El Guindi & Inas M. Mazen & Alaaeldin G. Fayez & Amal M. Mohamed & Alaa K. Kamel Received: 23 December 2017 /Accepted: 10 May 2018 /Published online: 2 June 2018 Springer Science+Business Media, LLC, part of Springer Nature 2018 Introduction vesicle) formation and inactivation of autosomal segment and consequently spermatocyte degeneration [13, 20–23]. 45,X testicular disorder of sex development (DSD) is a very rare disorder. It usually results from Y/ autosomal transloca- tions or insertion [1–3]. The frequency of Y/ autosome trans- locations in the general population is generally low occurring Case report in about 1 in 2000 . Y/ autosome (Y;A) translocations are usually balanced Clinical report and segregate in families with minimal effects on the phe- notype [4–6]. On the other hand, unbalanced Y;A recipro- A 32-year-old male patient was referred to the endocrinology cal translocations commonly present with infertility and clinic, Division of Human Genetics and Genome Research, azoospermia [7–9]. Some patients may present with
Journal of Assisted Reproduction and Genetics – Springer Journals
Published: Jun 2, 2018
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