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Article

Genotypic and phenotypic variability of 22q11.2 microduplications: An institutional experience

3 Sept 2019

Abstract excerpt

Duplications in the 22q11.2 region can cause 22q11.2 duplication syndrome and encompass a variety of phenotypes including developmental delays, facial abnormalities, cardiovascular defects, central nervous system delays, and other congenital abnormalities. However, the contribution of these contiguous duplicated regions to the clinical phenotypes has not been fully elucidated. In this study, we identified nine...

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PMID: 31479204
DOI: 10.1002/ajmg.a.61345

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