{"title":"环染色体21。","authors":"L Zergollern, D Muzinić, Z Raic","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>A case of a rare anomaly of the human karyotype--ring chromosome 21--is presented. By analysing the prenatal amniotic fluid of a 38-year-old woman asking genetic advice, primarily because of a cystic fibrosis burdening her first pregnancy, the authors discovered this chromosomal anomaly and made the karyotype of both parents which showed that mother was a carrier of the same anomaly as observed in her unborn child. The karyotyping of her second 7-year-old child also revealed ring chromosome 21, identical with that in its mother and unborn sister.</p>","PeriodicalId":7058,"journal":{"name":"Acta medica Iugoslavica","volume":"43 2","pages":"147-56"},"PeriodicalIF":0.0000,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Ring chromosome 21.\",\"authors\":\"L Zergollern, D Muzinić, Z Raic\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>A case of a rare anomaly of the human karyotype--ring chromosome 21--is presented. By analysing the prenatal amniotic fluid of a 38-year-old woman asking genetic advice, primarily because of a cystic fibrosis burdening her first pregnancy, the authors discovered this chromosomal anomaly and made the karyotype of both parents which showed that mother was a carrier of the same anomaly as observed in her unborn child. The karyotyping of her second 7-year-old child also revealed ring chromosome 21, identical with that in its mother and unborn sister.</p>\",\"PeriodicalId\":7058,\"journal\":{\"name\":\"Acta medica Iugoslavica\",\"volume\":\"43 2\",\"pages\":\"147-56\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1989-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Acta medica Iugoslavica\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"\",\"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 medica Iugoslavica","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
A case of a rare anomaly of the human karyotype--ring chromosome 21--is presented. By analysing the prenatal amniotic fluid of a 38-year-old woman asking genetic advice, primarily because of a cystic fibrosis burdening her first pregnancy, the authors discovered this chromosomal anomaly and made the karyotype of both parents which showed that mother was a carrier of the same anomaly as observed in her unborn child. The karyotyping of her second 7-year-old child also revealed ring chromosome 21, identical with that in its mother and unborn sister.