{"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":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"63 5","pages":"Pages 764-767"},"PeriodicalIF":2.0000,"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":"Taiwanese Journal of Obstetrics & Gynecology","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1028455924001906","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
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.
期刊介绍：
Taiwanese Journal of Obstetrics and Gynecology is a peer-reviewed journal and open access publishing editorials, reviews, original articles, short communications, case reports, research letters, correspondence and letters to the editor in the field of obstetrics and gynecology.
The aims of the journal are to:
1.Publish cutting-edge, innovative and topical research that addresses screening, diagnosis, management and care in women''s health
2.Deliver evidence-based information
3.Promote the sharing of clinical experience
4.Address women-related health promotion
The journal provides comprehensive coverage of topics in obstetrics & gynecology and women''s health including maternal-fetal medicine, reproductive endocrinology/infertility, and gynecologic oncology. Taiwan Association of Obstetrics and Gynecology.
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