{"title":"两个携带 4p16.1 微重复的表型正常家庭的临床和遗传分析","authors":"Xiaolin Wang , Yujiao Wang , Xinqiang Lan","doi":"10.1016/j.tjog.2023.12.004","DOIUrl":null,"url":null,"abstract":"<div><h3>Objective</h3><p>To help determine the pathogenicity of 4p16.1 microduplications, we reported two asymptomatic families carrying this variation.</p></div><div><h3>Case report</h3><p>We present the prenatal diagnosis and genetic analysis of two normal families with 4p16.1 microduplications.</p></div><div><h3>Conclusion</h3><p>This paper highlights two families with clinically asymptomatic 4p16.1 microduplications that assisted in determining the pathogenicity of this fragment. The findings can be used as a reference for genetic counseling in cases of similar abnormalities encountered during future prenatal diagnosis.</p></div>","PeriodicalId":2,"journal":{"name":"ACS Applied Bio Materials","volume":null,"pages":null},"PeriodicalIF":4.6000,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1028455924001906/pdfft?md5=39817ed5ca89f209642ab371de2fc41f&pid=1-s2.0-S1028455924001906-main.pdf","citationCount":"0","resultStr":"{\"title\":\"Clinical and genetic analysis of two phenotypically normal families carrying 4p16.1 microduplications\",\"authors\":\"Xiaolin Wang , Yujiao Wang , Xinqiang Lan\",\"doi\":\"10.1016/j.tjog.2023.12.004\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Objective</h3><p>To help determine the pathogenicity of 4p16.1 microduplications, we reported two asymptomatic families carrying this variation.</p></div><div><h3>Case report</h3><p>We present the prenatal diagnosis and genetic analysis of two normal families with 4p16.1 microduplications.</p></div><div><h3>Conclusion</h3><p>This paper highlights two families with clinically asymptomatic 4p16.1 microduplications that assisted in determining the pathogenicity of this fragment. The findings can be used as a reference for genetic counseling in cases of similar abnormalities encountered during future prenatal diagnosis.</p></div>\",\"PeriodicalId\":2,\"journal\":{\"name\":\"ACS Applied Bio Materials\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":4.6000,\"publicationDate\":\"2024-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.sciencedirect.com/science/article/pii/S1028455924001906/pdfft?md5=39817ed5ca89f209642ab371de2fc41f&pid=1-s2.0-S1028455924001906-main.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"ACS Applied Bio Materials\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1028455924001906\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"MATERIALS SCIENCE, BIOMATERIALS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"ACS Applied Bio Materials","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1028455924001906","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"MATERIALS SCIENCE, BIOMATERIALS","Score":null,"Total":0}
Clinical and genetic analysis of two phenotypically normal families carrying 4p16.1 microduplications
Objective
To help determine the pathogenicity of 4p16.1 microduplications, we reported two asymptomatic families carrying this variation.
Case report
We present the prenatal diagnosis and genetic analysis of two normal families with 4p16.1 microduplications.
Conclusion
This paper highlights two families with clinically asymptomatic 4p16.1 microduplications that assisted in determining the pathogenicity of this fragment. The findings can be used as a reference for genetic counseling in cases of similar abnormalities encountered during future prenatal diagnosis.
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