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Table 3 Recurrent CHD-associated CNV loci

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

Locus (hg19) CNV Size range (kb) Cardiac Phenotypes Frequency in our study Frequency in control p Value
4qter Deletion 4559-19269 DORV, right dominant AV canal, hypoplastic LV, multiple VSDs, BAV, CoA, DILV, hypoplastic aortic arch, TOF, PFO 5/502 0/9170a <0.0001
15q11.2 Deletion 245-2703 D-TGA, VSD, ASD, PS, CoA, PDA, AS, AR, left ventricular dysfunction 4/502 19/9170 0.0289
16p12.2c Deletion 480 ASD, TAPVC, PDA 3/502 3/9170 0.0025
Yp11.2 Deletion 1300-3000 ASD, CoA, PFO 3/502 12/32850b <0.0001
  1. acontrol cases from Soemedi et al. [8] and Cooper et al. [21].
  2. bcontrol cases from Repnikova et al. [22].
  3. cThe chromosome coordinates for this deletion map to 16p12.1 in hg18, but map to 16p12.2 in hg19.