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[Ultrasonographic phenotype and genetic analysis of fetuses with 17q12 microdeletion].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2022

Cai Meiying, Huang Hailong, Su Linjuan, Wu Xiaoqing, Xie Xiaorui, Li Ying, Lin Na, Xu Liangpu

Abstract excerpt

OBJECTIVE: To analyze the ultrasonographic phenotype and result of genetic testing in six fetuses carrying a 17q12 microdeletion. METHODS: Chromosomal microarray analysis (CMA) was carried out for 6200 pregnant women undergoing prenatal diagnosis from December 2016 to May 2021. RESULTS: CMA has identified 6 fetuses with a microdeletion in the 17q12 region, which spanned approximately 1.4 Mb and encompassed at...

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Identifiers

PMID: 36453953
DOI: 10.3760/cma.j.cn511374-20210722-00612

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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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