J P Fryns, A Kleczkowska, A M Dereymaeker, H Van den Berghe
{"title":"Mental retardation and Y/8 translocation [karyotype: 46,XY, t(Y;8)(q12;q24)] in father and son.","authors":"J P Fryns, A Kleczkowska, A M Dereymaeker, H Van den Berghe","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>In the present report we describe a 98/12-year-old male with Noonan phenotype, moderate mental retardation and 46,XY, der(8), t(Y;8)(q12;q24) karyotype. Further examination of the family revealed that the boy inherited the Noonan features from his mother and the Y/8 translocation from his moderately mentally handicapped father.</p>","PeriodicalId":75904,"journal":{"name":"Helvetica paediatrica acta","volume":"43 1-2","pages":"87-90"},"PeriodicalIF":0.0000,"publicationDate":"1988-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Helvetica paediatrica acta","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
In the present report we describe a 98/12-year-old male with Noonan phenotype, moderate mental retardation and 46,XY, der(8), t(Y;8)(q12;q24) karyotype. Further examination of the family revealed that the boy inherited the Noonan features from his mother and the Y/8 translocation from his moderately mentally handicapped father.
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