Fig. 1.

Depiction of the 22q11.2 region in chromosome 22 and the probe site. The ideogram of chromosome 22 and the 22q11.2 highlighted in a small red box are shown on top. This region includes four sets of LCR referred to as LCR-A, LCR-B, LCR-C, and LCR-D (brown boxes). The probes sites of dPCR are marked in red. Schematic of the CMA results of the four patients in the preliminary assessment of probe effectiveness study and 15 patients in retrospective study. The red bars represent deletion sizes, and blue bars represent duplication sizes