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

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.

Keywords

• Chromosomal microarray analysis(CMA)
• Chromosomal microduplications
• Prenatal diagnosis