H Chiyo, Y Kuroki, I Matsui, K Yanagida, Y Nakagome
{"title":"A 6p trisomy detected in a family with a \"giant satellite\".","authors":"H Chiyo, Y Kuroki, I Matsui, K Yanagida, Y Nakagome","doi":"10.1007/BF00273632","DOIUrl":null,"url":null,"abstract":"<p><p>A very large (giant) satellite was observed on one of the D-group chromosomes of a malformed and mentally retarded infant and her father. Detailed cytogenetic studies revealed that the giant satellite represented, in fact, a der(15) chromosome of translocation t(6;15)(p21;p12 or 13). The proposita was trisomic for a part of 6p(6pter leads to 6p21). The father was a balanced carrier, however, the deletion of the short arm of a No. 6 was hard to detect in routine karyotype analysis.</p>","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"30 1","pages":"63-7"},"PeriodicalIF":0.0000,"publicationDate":"1975-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF00273632","citationCount":"17","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Humangenetik","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/BF00273632","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 17
Abstract
A very large (giant) satellite was observed on one of the D-group chromosomes of a malformed and mentally retarded infant and her father. Detailed cytogenetic studies revealed that the giant satellite represented, in fact, a der(15) chromosome of translocation t(6;15)(p21;p12 or 13). The proposita was trisomic for a part of 6p(6pter leads to 6p21). The father was a balanced carrier, however, the deletion of the short arm of a No. 6 was hard to detect in routine karyotype analysis.
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