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Table 1 Association of CNV with isolated CHD and syndromic CHD

From: Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield

CNV category Syndromic CHD casesa Isolated CHD cases (n = 162) Syndromic CHD vs. Isolated CHD p Value
Syndromic CHD cases with co-occurring DD/ID or ASD (n = 75) Syndromic CHD cases without DD/ID and ASD(n = 173) p Value Total cases (n = 248)
Non-polymorphic CNVs 38 (50.7%) 60 (34.7%) 0.0234 98 (39.5%) 43 (26.5%) 0.0078
Pathogenic CNVs 17 (22.7%) 18 (10.4%) 0.0163 35 (14.1%) 7 (4.3%) 0.0013
Pathogenic + likely pathogenic CNVs 22 (29.3%) 29 (16.7%) 0.0275 51 (20.6%) 15 (9.3%) 0.0024
  1. aTwelve patients with aneuploidy were not included.
  2. The following abbreviations were used: DD, development delay; ID, intellectual disability; ASD, autism spectrum disorder.