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

ABSTRACT:

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 through 25 September 2024. Literature was screened, and data were extracted based on predefined inclusion and exclusion criteria.

Results

A total of 17 articles comprising 4107 subjects were included in this study. Among these, 1296 patients presented with congenital heart malformations, while 220 exhibited psychiatric and behavioral abnormalities. 1. Congenita

SUBMITTER: Li J 

PROVIDER: S-EPMC12414020 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature