{"title":"【神经管缺陷的发展与遗传咨询】。","authors":"N Canki","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>The analysis of thirty-seven cases of neural tube defects (NTD) resulted in the following conclusions: a) At least eleven cases had the Arnold-Chiari malformation, an autosomal recessive disorder which often remains unrecognized; b) Trisomy 18 and amniotic disease associated with NTD were diagnosed in two newborns; c) In eight cases there was one or more older children with NTD; d) In two families the parents were related. A review of the literature and the exposed data indicate a heterogeneous etiology and an important role of genetic factors in the genesis of NTD.</p>","PeriodicalId":76065,"journal":{"name":"Jugoslavenska ginekologija i opstetricija","volume":"24 3-4","pages":"45-8"},"PeriodicalIF":0.0000,"publicationDate":"1984-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[Development of neural tube defects and genetic counseling].\",\"authors\":\"N Canki\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>The analysis of thirty-seven cases of neural tube defects (NTD) resulted in the following conclusions: a) At least eleven cases had the Arnold-Chiari malformation, an autosomal recessive disorder which often remains unrecognized; b) Trisomy 18 and amniotic disease associated with NTD were diagnosed in two newborns; c) In eight cases there was one or more older children with NTD; d) In two families the parents were related. A review of the literature and the exposed data indicate a heterogeneous etiology and an important role of genetic factors in the genesis of NTD.</p>\",\"PeriodicalId\":76065,\"journal\":{\"name\":\"Jugoslavenska ginekologija i opstetricija\",\"volume\":\"24 3-4\",\"pages\":\"45-8\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1984-05-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Jugoslavenska ginekologija i opstetricija\",\"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":"Jugoslavenska ginekologija i opstetricija","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
[Development of neural tube defects and genetic counseling].
The analysis of thirty-seven cases of neural tube defects (NTD) resulted in the following conclusions: a) At least eleven cases had the Arnold-Chiari malformation, an autosomal recessive disorder which often remains unrecognized; b) Trisomy 18 and amniotic disease associated with NTD were diagnosed in two newborns; c) In eight cases there was one or more older children with NTD; d) In two families the parents were related. A review of the literature and the exposed data indicate a heterogeneous etiology and an important role of genetic factors in the genesis of NTD.