Article
Prenatal diagnosis of familial submicroscopic duplication at 18q22.3 without phenotypic abnormalities.
Taiwanese journal of obstetrics & gynecology - 1 May 2020
Hu Huamei, Ma Yongyi, Zhang Rong, Xu Juchun, Hu Bin, Long Yang, Xu Liang, Yao Hong, Liang Zhiqing
Abstract excerpt
OBJECTIVE: To report a case of familial submicroscopic duplication at 18q22.3 without phenotypic abnormalities. CASE REPORT: Here, we reported two different cases with novel copy number variation at chromosome 18q22.3: one carried a maternally inherited 2.36 Mb microduplication, and the other carried a patrilineally inherited 1.74 Mb microduplication. The HumanCytoSNP-12 array allows for the visualization of the...
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