L.M. Azevedo Moreira, L. Damasceno Espirito Santo, A. Fernandes Lacerda Carvalho
{"title":"唐氏综合症由于罕见的遗传15/21罗伯逊易位:遗传学和生殖咨询","authors":"L.M. Azevedo Moreira, L. Damasceno Espirito Santo, A. Fernandes Lacerda Carvalho","doi":"10.1016/S2171-9748(13)70040-0","DOIUrl":null,"url":null,"abstract":"<div><p>The carriers of a rearrangement involving with chromosome 21 have a potential risk of genetically unbalanced conceptions, which may result in liveborn children with Down syndrome. Reproductive risks for couples carriers of a balanced Robertsonian translocation depends on the rearranged chromosomes and the sex of the carrier. This article aims to analyze the segregation and reproductive trend of a rare 15/21 translocation in five generations of a family. It was considered the current advances in reproductive technology as a possibility to prevent fetal aneuploidia. Given the genetic risk, the preimplantation diagnosis appears also as an alternative to avoid the option of an unwanted later abortion and to obtain a healthy progeny.</p></div>","PeriodicalId":100720,"journal":{"name":"International Medical Review on Down Syndrome","volume":"17 3","pages":"Pages 36-38"},"PeriodicalIF":0.0000,"publicationDate":"2013-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S2171-9748(13)70040-0","citationCount":"1","resultStr":"{\"title\":\"Down syndrome due to rare inherited 15/21 Robertsonian translocation: genetics and reproductive counselinga\",\"authors\":\"L.M. Azevedo Moreira, L. Damasceno Espirito Santo, A. Fernandes Lacerda Carvalho\",\"doi\":\"10.1016/S2171-9748(13)70040-0\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>The carriers of a rearrangement involving with chromosome 21 have a potential risk of genetically unbalanced conceptions, which may result in liveborn children with Down syndrome. Reproductive risks for couples carriers of a balanced Robertsonian translocation depends on the rearranged chromosomes and the sex of the carrier. This article aims to analyze the segregation and reproductive trend of a rare 15/21 translocation in five generations of a family. It was considered the current advances in reproductive technology as a possibility to prevent fetal aneuploidia. Given the genetic risk, the preimplantation diagnosis appears also as an alternative to avoid the option of an unwanted later abortion and to obtain a healthy progeny.</p></div>\",\"PeriodicalId\":100720,\"journal\":{\"name\":\"International Medical Review on Down Syndrome\",\"volume\":\"17 3\",\"pages\":\"Pages 36-38\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2013-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1016/S2171-9748(13)70040-0\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"International Medical Review on Down Syndrome\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2171974813700400\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Medical Review on Down Syndrome","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2171974813700400","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Down syndrome due to rare inherited 15/21 Robertsonian translocation: genetics and reproductive counselinga
The carriers of a rearrangement involving with chromosome 21 have a potential risk of genetically unbalanced conceptions, which may result in liveborn children with Down syndrome. Reproductive risks for couples carriers of a balanced Robertsonian translocation depends on the rearranged chromosomes and the sex of the carrier. This article aims to analyze the segregation and reproductive trend of a rare 15/21 translocation in five generations of a family. It was considered the current advances in reproductive technology as a possibility to prevent fetal aneuploidia. Given the genetic risk, the preimplantation diagnosis appears also as an alternative to avoid the option of an unwanted later abortion and to obtain a healthy progeny.