{"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}
引用次数: 1
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.
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