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Article

Correlation between 22q11.2 deletion syndrome phenotype and deletion location: a meta-analysis.

Archives of gynecology and obstetrics - 1 Oct 2025

Li Jianing, Wang Rui, Liu Ling, Zhao Jun, Zhao Yue, Liu Fangfang, Zhu Mengyao, Feng Chunyu, Zhao Yueshu

Abstract excerpt

BACKGROUND: The clinical manifestations of 22q11.2 deletion syndrome (22q11.2 DS) are highly heterogeneous, and the underlying causes of phenotypic variation remain unclear. This study conducted a systematic meta-analysis to evaluate the impact of the deletion position within the 22q11.2 region on phenotypic variability. METHODS: PubMed, Web of Science, Scopus, Embase, and Cochrane Library databases were searched...

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Identifiers

PMID: 40632144
DOI: 10.1007/s00404-025-08041-3
PMCID: PMC12414020

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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