{"title":"2名男性和2名女性患者因易位t(X;15)导致部分Xp重复:一份家族病例报告和文献回顾。","authors":"M I Melaragno, M A Ramos, D Brunoni","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>A three generation familial translocation (X;15)(p22;p11) is responsible for duplication (X)(pter-->p22) in two male and two female patients. It is present in a balanced state in the mothers and with the derivative chromosome 15 in the children. The Xp segment of the derivative chromosome 15 is separated from the X inactivation center and cannot undergo X inactivation. As a result, there is functional disomy of Xp in the male and female patients that is responsible for mental retardation and other phenotypic findings.</p>","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"41 4","pages":"189-94"},"PeriodicalIF":0.0000,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Partial Xp duplication due to a translocation t(X;15) in two male and two female patients: a familial case report and review of the literature.\",\"authors\":\"M I Melaragno, M A Ramos, D Brunoni\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>A three generation familial translocation (X;15)(p22;p11) is responsible for duplication (X)(pter-->p22) in two male and two female patients. It is present in a balanced state in the mothers and with the derivative chromosome 15 in the children. The Xp segment of the derivative chromosome 15 is separated from the X inactivation center and cannot undergo X inactivation. As a result, there is functional disomy of Xp in the male and female patients that is responsible for mental retardation and other phenotypic findings.</p>\",\"PeriodicalId\":7908,\"journal\":{\"name\":\"Annales de genetique\",\"volume\":\"41 4\",\"pages\":\"189-94\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1998-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annales de genetique\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"\",\"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 genetique","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Partial Xp duplication due to a translocation t(X;15) in two male and two female patients: a familial case report and review of the literature.
A three generation familial translocation (X;15)(p22;p11) is responsible for duplication (X)(pter-->p22) in two male and two female patients. It is present in a balanced state in the mothers and with the derivative chromosome 15 in the children. The Xp segment of the derivative chromosome 15 is separated from the X inactivation center and cannot undergo X inactivation. As a result, there is functional disomy of Xp in the male and female patients that is responsible for mental retardation and other phenotypic findings.