Fig. 2

Chromosome 12q13.13 or 12q13.13q13.2 duplications and deletions found in our patient and previously reported patients. The top panel shows the ideogram of chromosome 12 with the 12q13.13q13.2 region marked in a small red box. The scatter plot of the Agilent array-CGH data shows an 802 kb microduplication of 12q13.13 in our patient. The schematic representation in the middle panel shows a comparison of the duplications and deletions involving the 12q13.13 or 12q13.13q13.2 region in the 11 reported patients and our patient. The green bar represents the duplication detected in our patient; the blue bar bars represent duplications identified in previously reported patients; the red bars represent deletions identified in previously reported patients. The common region shared by the deletions and the duplications is shown in a box. The UCSC genes in the overlapping region are shown in the bottom panel. The red arrows point to the candidate genes