Genetic and ultrasonographic analyses of fetuses with 1q21.1q21.2 microdeletion/microduplication: a retrospective study

Abstract Background 1q21.1q21.2 microdeletions/microduplications are rare and incompletely penetrant genetic mutations, and only a few reports regarding their prenatal diagnosis are currently available. Here, we analyzed the ultrasonographic phenotypic characteristics of fetuses with these mutations...

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Bibliographic Details
Main Authors: Nan Guo, Huili Xue, Bin Liang, Hailong Huang, Meiying Cai, Liangpu Xu
Format: Article
Language:English
Published: BMC 2023-08-01
Series:BMC Medical Genomics
Subjects:
Online Access:https://doi.org/10.1186/s12920-023-01618-4