Figure 3
From: DGCR6 at the proximal part of the DiGeorge critical region is involved in conotruncal heart defects
Reported cases with copy number alteration in the proximal part of the DiGeorge critical region. The bars with case numbers show deleted or duplicated regions in cases with heart defects. Cases 1 and 2 are present cases, whereas cases 3 to 6 are previously reported cases. Red bars indicate deleted regions, and blue bars indicate duplicated regions. Light and dark red bars show the estimated maximum and minimum deleted area respectively in case 3 and 4. The 3-Mb and 1.5-Mb commonly deleted regions in DGS are shown as the two red bars at the top. LCR A to LCR D in 22q11.2 region are shown as open boxes, and STS markers (D22S427 and D22S1638), FISH probes (TUPLE1), and genes located around the area are also indicated. The heart defects observed in cases 3 to 6 are as follows: case3; interrupted aortic arch type B, pulmonary stenosis,47 case 4; tetralogy of Fallot,48 case 5; pulmonary stenosis (DECIPHER no. 285778), case 6; abnormal tricuspid valve (DECIPHER no. 285769). DGS, DiGeorge syndrome; FISH, fluorescence in situ hybridization; LCR, low copy repeat; STS, sequence-tagged site.
