Figure 2.
Ascertainment of triplications in patients and carrier parents. Shown above is the genome structure (horizontal black line) and below the genomic location of the probes for qPCR (green), MLPA (blue) and FISH (black), with the positions shown as vertical tics. Copy number calls of the three different approaches are compared in representative male (left) and female (right) subjects. The x-axis represents the relative genomic locations of each probe. Results in subject BAB2817 and mother BAB2818 are shown in this figure. Additional subjects/parents carrying triplication can be found in Supplementary Material, Figures S2 and S3.