Phenotypic profiles of syndromic and variably expressive CNVs.

(A) Table listing variably expressive (top) and syndromic (bottom) CNV regions is shown. The colored boxes indicate the frequency of de novo versus inherited CNV cases for del and dup previously identified in a cohort of 2,312 children with developmental disorders [12]. The 12 variably expressive CNV regions highlighted in bold were selected for the analysis described in the article. (B) Table listing average frequencies of neurodevelopmental phenotypes for select variably expressive and syndromic CNVs, curated from GeneReviews reports on individual CNVs [18], is shown. White boxes represent no available data from GeneReviews but do not necessarily indicate a lack of association between the CNV and the phenotype (for example, 1q21.1 deletion and schizophrenia). Data for this figure are available in S1 Table and S2 Table. CNV, copy-number variant; del, deletion; dup, duplication.