Figure 4.

Deletion regions of chromosome 22 in 12 PMS patients and their radiation sensitivity expressed as breaks per metaphase. The entire chromosome and a subsection (red box) of chromosome 22 are indicated. The location of the SHANK3 gene is indicated as a short red line. The blue lines indicate the length of deletions in 11 individuals. The upper closed line indicates an individual with a ring chromosome. Radiation sensitivity of individuals is indicated in the right column. The dashed blue line indicates individuals with increased radiation sensitivity, and the solid red line indicates individuals with significantly increased radiation sensitivity. Loss of function of the SMARCB1 gene (red arrow) and its product, the tumor suppressor protein INI1, is associated with tumor incidence and, in particular, with atypical teratoid/rhabdoid tumors.