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Article

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

BMC medical genomics - 23 Aug 2023

Guo Nan, Xue Huili, Liang Bin, Huang Hailong, Cai Meiying, Xu Liangpu

Abstract excerpt

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 to improve the understanding, diagnosis, and screening of these mutations during gestation. METHODS: We retrospectively...

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PMID: 37612587
DOI: 10.1186/s12920-023-01618-4
PMCID: PMC10463642

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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