Fig. 5

Examples of 3D FISH visualization of intra-chromosomal interaction changes. The regions for which Hi-C predicted changes in interaction, regions 21.8–22.5 and 50–51 Mbp on chromosome 22q, were visualized by 3D DNA FISH using BAC probes RP11-47L18 and RP11-125K3, labeled with biotin (magenta) or digoxigenin (green). Arrow: an example for the magenta and green FISH probes in close proximity in a cell carrying the 22q11.2 deletion. Scale bars are 5 µm. Magenta and green bars on chromosome 22q indicate the locations of the biotin and digoxigenin FISH probes, respectively. Black dashed lines indicate the position of the 3-Mbp deletion