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Article

Phenotypic heterogeneity in 22q11.2 deletion syndrome: Copy Number Variants as genetic modifiers for congenital heart disease in a Brazilian cohort.

American journal of medical genetics. Part A - 1 May 2023

Zamariolli M, Dantas A G, Nunes N, Moysés-Oliveira M, Sgardioli I C, Soares D C Q, Gil-Da-Silva-Lopes V L, Kim C A, Melaragno M I

Abstract excerpt

The clinical heterogeneity in 22q11.2 deletion syndrome (22q11.2DS) underlies complex genetic mechanisms including variants in other regions of the genome, known as genetic modifiers. Congenital heart disease (CHD) is one of the most relevant phenotypes in the syndrome and copy number variants (CNVs) outside the 22q11.2 region could play a role in its variable expressivity. Since those described loci account for...

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PMID: 36751694
DOI: 10.1002/ajmg.a.63145

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