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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| http://dx.doi.org/10.1016/j.tjog.2023.12.004 | DOI Listing |
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