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Updated: Jun 13, 2025

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Clinical and genetic analysis of two phenotypically normal families carrying 4p16.1 microduplications
Xiaolin Wang1, Yujiao Wang2, Xinqiang Lan1
1Department of Medical Genetics, The Affiliated Weihai Second Municipal Hospital of Qingdao University (Weihai Maternity and Child Care Hospital), Weihai, China.
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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