Clinical and genetic analysis of two phenotypically normal families carrying 4p16.1 microduplications

Autor: Xiaolin Wang, Yujiao Wang, Xinqiang Lan
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: Taiwanese Journal of Obstetrics & Gynecology, Vol 63, Iss 5, Pp 764-767 (2024)
Druh dokumentu: article
ISSN: 1028-4559
DOI: 10.1016/j.tjog.2023.12.004
Popis: 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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