A Kleczkowska, J P Fryns, F Moerman, M Martens, E Eggermont, J Jaeken, H Van den Berghe
{"title":"Trisomy 3q2 and Pierre-Robin sequence in a boy with unbalanced 46,XY, der(10), t(3;10)(q23;q26.3) de novo karyotype.","authors":"A Kleczkowska, J P Fryns, F Moerman, M Martens, E Eggermont, J Jaeken, H Van den Berghe","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>A partial trisomy of the long arm of chromosome number 3 (3q23----3qter) is reported in a malformed male newborn with a Pierre-Robin sequence. The importance of the detection of chromosomal abnormalities towards the nosology of malformation sequences is discussed.</p>","PeriodicalId":75904,"journal":{"name":"Helvetica paediatrica acta","volume":"43 3","pages":"245-8"},"PeriodicalIF":0.0000,"publicationDate":"1988-11-01","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
A partial trisomy of the long arm of chromosome number 3 (3q23----3qter) is reported in a malformed male newborn with a Pierre-Robin sequence. The importance of the detection of chromosomal abnormalities towards the nosology of malformation sequences is discussed.
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