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[Analysis of related phenotype of prenatal cases with copy number variations in various region of 22q11.2].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2021

Cao Peixuan, Zhu Xiangyu, Gu Leilei, Liu Wei, Li Jie

Abstract excerpt

OBJECTIVE: To analyze the prenatal ultrasound phenotypes of copy number variations (CNVs) in different regions of 22q11.2, their parental original, and pregnancy outcome. METHODS: Prenatal phenotypes of 25 cases with CNVs of the 22q11.2 region detected by chromosomal microarray analysis (CMA) was reviewed, which including There were 13 deletions and 12 duplications. Multiplex ligation-dependent probe...

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Identifiers

PMID: 34729742
DOI: 10.3760/cma.j.cn511374-20200818-00606

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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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