3q29 Microduplication syndrome: a new family case of phenotype heterogeneity

Jin-hua Wu, Tian-shu Zhou, Man Wang,Yu-jie Jin, Rui Li,Yan Li, Sheng-long He,Juan-juan Zhang,Chao-yun Wang, Ping-an Xiong, Chun-lei Deng, Xiao-hua Tian, Lei Zhao,Chong Guo,Zhi-jun Zhang

crossref(2022)

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Abstract
Here, we describe a family case carrier with 3q29 microduplication, a 1.56Mb and 1.68 Mb duplicate region, that was identified by CNV-seq. Different from the common clinical traits of previously reported cases, this family of individuals shows an apparently normal phenotype.
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