{"title":"马赛克唐氏综合症一例","authors":"S. Habib","doi":"10.3329/BJPATH.V24I1.2880","DOIUrl":null,"url":null,"abstract":"Cytogenetic analysis in 44 clinically suspected cases of Down syndrome (DS) was carried out using conventional Giemsa-trypsin-banding technique. Among them 43 cases were cytogenetically proved as DS. Forty-two individuals (97.7%) exhibited pure trisomy 21. The remaining child was a seven years old boy, the second-born of nonconsanguineous parents and had 46/47XY, +21 mosaicism. He also possessed most of the phenotypic characteristics of the classical trisomy 21.","PeriodicalId":119901,"journal":{"name":"Bangladesh Journal of Pathology","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2009-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":"{\"title\":\"A Case of Mosaic Down Syndrome\",\"authors\":\"S. Habib\",\"doi\":\"10.3329/BJPATH.V24I1.2880\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Cytogenetic analysis in 44 clinically suspected cases of Down syndrome (DS) was carried out using conventional Giemsa-trypsin-banding technique. Among them 43 cases were cytogenetically proved as DS. Forty-two individuals (97.7%) exhibited pure trisomy 21. The remaining child was a seven years old boy, the second-born of nonconsanguineous parents and had 46/47XY, +21 mosaicism. He also possessed most of the phenotypic characteristics of the classical trisomy 21.\",\"PeriodicalId\":119901,\"journal\":{\"name\":\"Bangladesh Journal of Pathology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2009-07-23\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Bangladesh Journal of Pathology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.3329/BJPATH.V24I1.2880\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Bangladesh Journal of Pathology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3329/BJPATH.V24I1.2880","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Cytogenetic analysis in 44 clinically suspected cases of Down syndrome (DS) was carried out using conventional Giemsa-trypsin-banding technique. Among them 43 cases were cytogenetically proved as DS. Forty-two individuals (97.7%) exhibited pure trisomy 21. The remaining child was a seven years old boy, the second-born of nonconsanguineous parents and had 46/47XY, +21 mosaicism. He also possessed most of the phenotypic characteristics of the classical trisomy 21.
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