{"title":"Bisatellited microchromosomes and multiple congenital malformations.","authors":"J Chemke, S Rappaport, R Nisani, B M Mogilner","doi":"10.1111/j.1651-2227.1983.tb09751.x","DOIUrl":null,"url":null,"abstract":"<p><p>The significance of small additional metacentric chromosomes is still unclear. A patient is reported with multiple congenital malformations involving craniofacial structures, the cardiovascular system and gastrointestinal tract, in whom an extra small bisatellited chromosome was detected. The maternal karyotype revealed a marker number 9 chromosome. These cases present a true diagnostic dilemma in genetic counseling, since chromosomal instability may occur in the presence of parental minor structural chromosomal changes.</p>","PeriodicalId":75407,"journal":{"name":"Acta paediatrica Scandinavica","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"1983-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1111/j.1651-2227.1983.tb09751.x","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Acta paediatrica Scandinavica","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1111/j.1651-2227.1983.tb09751.x","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
The significance of small additional metacentric chromosomes is still unclear. A patient is reported with multiple congenital malformations involving craniofacial structures, the cardiovascular system and gastrointestinal tract, in whom an extra small bisatellited chromosome was detected. The maternal karyotype revealed a marker number 9 chromosome. These cases present a true diagnostic dilemma in genetic counseling, since chromosomal instability may occur in the presence of parental minor structural chromosomal changes.
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