Figure 2

Array-CGH profile showing loss at 9p13.1-p12 was confirmed by qPCR for CNTNAP3 gene. (A-B) 9p13.1-p12 loss was the unique novel CNV shared by the Twin-1 (A) and Twin-2 (B). Scatter plots with x-axis coordinate representing the probes positions along the genome. The low bars (red) indicate losses of genomic regions. The images were adapted from the Nexus 7.5 software. (C) Relative quantification of CNTNAP3 copy number alterations evaluated by qPCR. Normal DNA copy number (two copies) was found in the controls and parental blood. Losses were found in peripheral blood and tumor cells from twins. Image obtained from Graphpad Prism 5 (Graphpad Software Inc., La Jolla, CA).