{"title":"双卫星微染色体和多种先天性畸形。","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":"72 3","pages":"469-71"},"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":"{\"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\":\"72 3\",\"pages\":\"469-71\"},\"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}","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}
Bisatellited microchromosomes and multiple congenital malformations.
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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