CHEK2 and cancer: A 1.6 Mb interstitial deletion involving the 22q12.1-q12.2 region was detected by SNPa in Case no. 5 (Figure 3C) and included four cancer related genes: MN1, NF2, CHEK2 and EWSR1. In Case no. 6, copy number gain at 16q12.1→q12.2 spanned TOX3 (refer below).