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Article

Prenatal diagnosis of 22q11.2 copy number abnormalities in fetuses via single nucleotide polymorphism array.

Molecular biology reports - 1 Oct 2020

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

Abstract excerpt

The q11.2 region on chromosome 22 contains numerous low-copy repeats that lead to deleted or duplicated regions in the chromosome, thereby resulting in different syndromes characterized by intellectual disabilities or congenital anomalies. The association between patient phenotypes and 22q11.2 copy number abnormalities has been previously described in postnatal cases; however, these features have not been...

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Share to Abnormalities, Multiple
Share to Chromosomes, Human, Pair 22

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single Nucleotide

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Identifiers

PMID: 32935260
DOI: 10.1007/s11033-020-05815-7
PMCID: PMC7588391

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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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