L Zelante , M.R Piemontese , G Francioli , S Calvano
{"title":"2例48,xxyy患者:临床，细胞遗传学和分子方面","authors":"L Zelante , M.R Piemontese , G Francioli , S Calvano","doi":"10.1016/S0003-3995(03)00030-3","DOIUrl":null,"url":null,"abstract":"<div><p>Two 48,XXYY males, a young and an adult patient, have been clinically and molecularly analysed. Clinical findings seem less severe in the young patient. This clinical difference could be mainly due to the age of the younger patient or, alternatively, the different pattern of X-inactivation observed in the two patients could play a role in the degree of the clinical manifestations.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"46 4","pages":"Pages 479-481"},"PeriodicalIF":0.0000,"publicationDate":"2003-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S0003-3995(03)00030-3","citationCount":"14","resultStr":"{\"title\":\"Two 48,XXYY patients: clinical, cytogenetic and molecular aspects\",\"authors\":\"L Zelante , M.R Piemontese , G Francioli , S Calvano\",\"doi\":\"10.1016/S0003-3995(03)00030-3\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>Two 48,XXYY males, a young and an adult patient, have been clinically and molecularly analysed. Clinical findings seem less severe in the young patient. This clinical difference could be mainly due to the age of the younger patient or, alternatively, the different pattern of X-inactivation observed in the two patients could play a role in the degree of the clinical manifestations.</p></div>\",\"PeriodicalId\":100089,\"journal\":{\"name\":\"Annales de Génétique\",\"volume\":\"46 4\",\"pages\":\"Pages 479-481\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2003-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1016/S0003-3995(03)00030-3\",\"citationCount\":\"14\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annales de Génétique\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0003399503000303\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annales de Génétique","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0003399503000303","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Two 48,XXYY patients: clinical, cytogenetic and molecular aspects
Two 48,XXYY males, a young and an adult patient, have been clinically and molecularly analysed. Clinical findings seem less severe in the young patient. This clinical difference could be mainly due to the age of the younger patient or, alternatively, the different pattern of X-inactivation observed in the two patients could play a role in the degree of the clinical manifestations.
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