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

Year: 2024

Type: article

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.

Source: Taiwanese Journal of Obstetrics and Gynecology

DOI: 10.1016/j.tjog.2023.12.004

Authors: Xiaolin Wang, Yujiao Wang, Xinqiang Lan

Institutions: Qingdao University, Weihai Maternal and Child Health Hospital

Language: English

Topic: Genomic variations and chromosomal abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4402397905

FWCI:

Cites: 10

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Related to: 10