3Q29 Microduplication Syndrome: a New Family Case of Phenotype Heterogeneity
crossref(2022)
摘要
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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Diagnosis
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