S. Xharra, E. Behluli, A. Moder, H. Nefic, R. Hadziselimovic, G. Temaj
{"title":"Association of X Chromosome Aberrations with Male Infertility","authors":"S. Xharra, E. Behluli, A. Moder, H. Nefic, R. Hadziselimovic, G. Temaj","doi":"10.2478/amb-2021-0051","DOIUrl":null,"url":null,"abstract":"Abstract Male infertility is caused by spermatogenetic failure, clinically noted as oligoor azoospermia. Approximately 20% of infertile patients carry a genetic defect. The most frequent genetic defect leading to azoospermia (or severe oligozoospermia) is Klinefelter syndrome (47, XXY), which is numerical chromosomal abnormality and Y- structural chromosome aberration. The human X chromosome is the most stable of all human chromosomes. The X chromosome is loaded with regions of acquired, rapidly evolving genes. The X chromosome may actually play an essential role in male infertility and sperm production. Here we will describe X chromosome aberrations, which are associated with male infertility.","PeriodicalId":35746,"journal":{"name":"Acta Medica Bulgarica","volume":"48 1","pages":"69 - 72"},"PeriodicalIF":0.0000,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Acta Medica Bulgarica","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2478/amb-2021-0051","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
Abstract
Abstract Male infertility is caused by spermatogenetic failure, clinically noted as oligoor azoospermia. Approximately 20% of infertile patients carry a genetic defect. The most frequent genetic defect leading to azoospermia (or severe oligozoospermia) is Klinefelter syndrome (47, XXY), which is numerical chromosomal abnormality and Y- structural chromosome aberration. The human X chromosome is the most stable of all human chromosomes. The X chromosome is loaded with regions of acquired, rapidly evolving genes. The X chromosome may actually play an essential role in male infertility and sperm production. Here we will describe X chromosome aberrations, which are associated with male infertility.
IF 16 1区 生物学Molecular CellPub Date : 2020-11-05DOI: 10.1016/j.molcel.2020.10.022
Kathryn T Bieging-Rolett, Alyssa M Kaiser, David W Morgens, Anthony M Boutelle, Jose A Seoane, Eric L Van Nostrand, Changyu Zhu, Shauna L Houlihan, Stephano S Mello, Brian A Yee, Jacob McClendon, Sarah E Pierce, Ian P Winters, Mengxiong Wang, Andrew J Connolly, Scott W Lowe, Christina Curtis, Gene W Yeo, Monte M Winslow, Michael C Bassik, Laura D Attardi
期刊介绍：
About 30 years ago - in 1973, on the initiative of the Publishing House „Medicine and Physical Culture", namely its former director Mr. Traian Ivanov, the Ministry of Health set up and accepted to subsidize a new medical magazine that was to be published only in the English language and had to reflect the status and the achievements of the Bulgarian medical science. Thus the language barrier was overcome and stable relations were established with the international medical society, large libraries, and university centers. The famous internationally known scientist professor Assen A. Hadjiolov was elected edition-in-chief by the first editorial staff and the magazine was named Acta Medica Bulgarica.
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