携带 4p16.1 微重复的两表现型正常家系的临床与遗传学分析。
Clinical and genetic analysis of two phenotypically normal families carrying 4p16.1 microduplications.
机构信息
Department of Medical Genetics, The Affiliated Weihai Second Municipal Hospital of Qingdao University (Weihai Maternity and Child Care Hospital), Weihai, China.
Department of Pediatrics, The Affiliated Weihai Second Municipal Hospital of Qingdao University (Weihai Maternity and Child Care Hospital), Weihai, China.
出版信息
Taiwan J Obstet Gynecol. 2024 Sep;63(5):764-767. doi: 10.1016/j.tjog.2023.12.004.
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.
目的
为了帮助确定 4p16.1 微重复的致病性，我们报道了两个携带该变异的无症状家族。
病例报告
我们报告了两个正常家族的产前诊断和遗传分析，他们携带 4p16.1 微重复。
结论
本文介绍了两个具有临床无症状 4p16.1 微重复的家族，这有助于确定该片段的致病性。这些发现可以作为未来产前诊断中遇到类似异常情况的遗传咨询的参考。
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