Wan Norizzati Wan Mohamad Zamri, N. M. Z. Mat Zin, N. A. Mohd Nawi, Aziati Aswari Anuar, Nazihah Mohd Yunus, S. Sulong, Z. Alwi, R. Ankathil
{"title":"马赛克47,XYY/45,X表现为男性不育症:罕见病例报告","authors":"Wan Norizzati Wan Mohamad Zamri, N. M. Z. Mat Zin, N. A. Mohd Nawi, Aziati Aswari Anuar, Nazihah Mohd Yunus, S. Sulong, Z. Alwi, R. Ankathil","doi":"10.33425/2639-9342.1171","DOIUrl":null,"url":null,"abstract":"Sex chromosome aneuploidies are the most common chromosome abnormalities associated with infertility in adult men. 47, XYY syndrome also known as Jacob Syndrome (JS) is one sex chromosome aneuploidy. Majority of 47, XYY men show normal spermatogenesis while minority may have varying degrees of impairment in spermatogenesis. This case report discusses about a 32 year old Malay gentleman who was diagnosed to have azoospermia for which cytogenetic analysis revealed an abnormal mosaic 47,XYY/45,X karyotype pattern as the underlying genetic cause. Abnormal mosaic 47,XYY/45,X karyotype associated with infertility is extremely rare in human population and hence reported for its rarity.","PeriodicalId":12828,"journal":{"name":"Gynecology & reproductive health","volume":"224 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2021-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Mosaic 47,XYY/45,X Presenting With Male Infertility: A Rare Case Report\",\"authors\":\"Wan Norizzati Wan Mohamad Zamri, N. M. Z. Mat Zin, N. A. Mohd Nawi, Aziati Aswari Anuar, Nazihah Mohd Yunus, S. Sulong, Z. Alwi, R. Ankathil\",\"doi\":\"10.33425/2639-9342.1171\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Sex chromosome aneuploidies are the most common chromosome abnormalities associated with infertility in adult men. 47, XYY syndrome also known as Jacob Syndrome (JS) is one sex chromosome aneuploidy. Majority of 47, XYY men show normal spermatogenesis while minority may have varying degrees of impairment in spermatogenesis. This case report discusses about a 32 year old Malay gentleman who was diagnosed to have azoospermia for which cytogenetic analysis revealed an abnormal mosaic 47,XYY/45,X karyotype pattern as the underlying genetic cause. Abnormal mosaic 47,XYY/45,X karyotype associated with infertility is extremely rare in human population and hence reported for its rarity.\",\"PeriodicalId\":12828,\"journal\":{\"name\":\"Gynecology & reproductive health\",\"volume\":\"224 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2021-12-30\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Gynecology & reproductive health\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.33425/2639-9342.1171\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Gynecology & reproductive health","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.33425/2639-9342.1171","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Mosaic 47,XYY/45,X Presenting With Male Infertility: A Rare Case Report
Sex chromosome aneuploidies are the most common chromosome abnormalities associated with infertility in adult men. 47, XYY syndrome also known as Jacob Syndrome (JS) is one sex chromosome aneuploidy. Majority of 47, XYY men show normal spermatogenesis while minority may have varying degrees of impairment in spermatogenesis. This case report discusses about a 32 year old Malay gentleman who was diagnosed to have azoospermia for which cytogenetic analysis revealed an abnormal mosaic 47,XYY/45,X karyotype pattern as the underlying genetic cause. Abnormal mosaic 47,XYY/45,X karyotype associated with infertility is extremely rare in human population and hence reported for its rarity.
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