Figure 3

FISH results with PAX3 breakapart probe (Auqarius, Cytocell). A – patient’s metaphase spread. Arrows indicate fluorescent signals. Yellow arrow shows normal chromosome 2 with both fluorescent signals present. Note absence of one red signal on one of the chromosomes 2, indicated by green arrow. B – patient’s mother blood cell nucleus. Yellow arrows indicate fluorescent signals showing no deletion within examined loci. The same signal pattern was observed in patient’s father. C – schematic overview of PAX3 probe (Vysis). Red bar represents proximal region of probe coverage (observed as red signal), green bar – distal region (observed as green signal).