Figure 3.
The 17q deletion in a sample with MCC (case 5, Supplementary Material) shown on a chromosome plot from Nexus 5.0. The deletion in 17q24.3 was correctly identified by Nexus 5.0 in both clear and blood-stained AF. The upper panel shows the chromosome 17 plot of a sample with a 17q deletion and with MCC (uncultured blood-stained AF, DNA input 118 ng, QC=0.067). The lower panel shows the chromosome 17 plot of the same patient sample with a 17q deletion, but the array assay is performed on uncultured clear AF (DNA input 54 ng, QC=0.07).