Figure 2

Genomic map of the 22q11.2 region based on human genome overview page (Build 37.1). The relative positions of LCR22s and ranges of LCR22-A, -B, -C, and -D, as defined by Shaikh et al. [5], are depicted. The FISH probes N25 (D22S75) and TUPLE1 are marked on the LCR22s. The 3 Mb and 1.5 Mb typical deletion regions are shown in yellow. The MLPA probes were arranged according to the manufacturer's product information (MRC-Holland) and the position of the related gene in chromosome 22q11.2. The three types of deletion regions are delineated as Type I, Type II, and Type III, corresponding to the N25(D22S75) to LZTR1, CDC45L to LZTR1, and N25(D22S75) to LZTR1, respectively. The red lines indicate the deletion regions detected by MLPA analysis, whereas the blue lines designate the results of the FISH analysis.