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Table 2 Clinical relevance of CNV to CHD phenotypes

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

  A C D E F G H
Isolated CHD cases        
No. of cases n = 13 n = 19 n = 26 n = 8 n = 44 n = 31 -
Non-polymorphic CNV 4 (30.8%) 1 (5.3%) 7 (26.9%) 1(12.5%) 17 (38.6%) 7 (22.6%) -
Pathogenic CNV 0 0 1 (3.9%) 0 3 (6.8%) 2 (6.5%) -
Pathogenic + likely pathogenic CNV 0 0 4 (15.4%) 0 5 (11.4%) 3 (9.7%) -
All CHD cases        
No. of cases n = 84 n = 41 n = 74 n = 27 n = 75 n = 47 n = 23
Non-polymorphic CNV 34(40.5%) 6(14.6%) 25(33.8%) 12(44.4%) 31(44.3%) 14(29.8%) 4(17.4%)
Pathogenic CNV 11(13.1%) 2 (4.9%) 6 (8.1%) 4 (14.8%) 10(13.3%) 3(6.4%) 1(4.4%)
Pathogenic + likely pathogenic CNV 17(20.2%) 2 (4.9%) 13(17.6%) 4 (14.8%) 13(17.3%) 5(10.6%) 3(13.0%)
  1. The cases of B category was too low, thus not included. The twelve patients with aneuploidy were not included for calculation.