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Article

[Genotype and phenotype studies on fetuses of 22q11.2 deletion syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jul 2020

Zhu Haiyan, Zhang Yunshan, Ji Chunyan, Li Shanshan, Niu Yanyan, Zhang Hairong, Chen Lei

Abstract excerpt

OBJECTIVE: To study the genotype and phenotype of fetuses with 22q11.2 microdeletion and other abnormalities such as cardiac malformation and cleft palate. METHODS: Fetal ultrasound was carried out at 12 weeks to 20 to 24 weeks of gestation. After excluding the chromosomal karyotype abnormality, single nucleotide polymorphism (SNP) array was used to detect copy number variations of 5 fetuses with heart...

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PMID: 32619250
DOI: 10.3760/cma.j.issn.1003-9406.2020.07.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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