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Article

Identifying of 22q11.2 variations in Chinese patients with development delay.

BMC medical genomics - 22 Jan 2021

Zhang Yuanyuan, Liu Xiaoliang, Gao Haiming, He Rong, Zhao Yanyan

Abstract excerpt

BACKGROUND: 22q11.2 variation is a significant genetic factor relating to development delay and/or intellectual disability. However, the prevalence, genetic characteristics and clinical phenotype in Chinese patients are unknown. METHODS: In total 6034 patients with development delay and/or intellectual disability were screened by multiplex ligation-dependent probe amplification (MLPA) P245 and G-band karyotyping....

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Identifiers

PMID: 33482818
DOI: 10.1186/s12920-020-00849-z
PMCID: PMC7821542

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