两个携带 4p16.1 微重复的表型正常家庭的临床和遗传分析

IF 2 4区医学 Q2 OBSTETRICS & GYNECOLOGY Taiwanese Journal of Obstetrics & Gynecology Pub Date : 2024-09-01 DOI:10.1016/j.tjog.2023.12.004

Xiaolin Wang , Yujiao Wang , Xinqiang Lan

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引用次数: 0

摘要

目的为了帮助确定 4p16.1 微重复的致病性，我们报告了两个携带该变异的无症状家系。病例报告我们介绍了两个患有 4p16.1 微重复的正常家系的产前诊断和遗传分析。这些研究结果可作为今后产前诊断中遇到类似异常情况时遗传咨询的参考。

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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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来源期刊

Taiwanese Journal of Obstetrics & Gynecology OBSTETRICS & GYNECOLOGY-

CiteScore

3.60

自引率

23.80%

发文量

207

审稿时长

4-8 weeks

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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