Figure 3

Parental inheritance of small WT1 mutations and large 11p13 deletion and a model of Wilms tumorigenesis. Black and white circles in terminal 11p represent methylated and unmethylated statuses, respectively, at CTCF6 in the IGF2-H19 region. Blue arrows indicate the expression of IGF2. × and star in the 11p13 region indicate the first and second WT1 mutations, respectively. Solid and broken arrows in the 11p13 region indicate normal and abnormal WT1 expression, respectively. Parents had balanced insertions involving the 11p13 band (H). A gap in the 11p chromatid (I and L) indicates a large deletion encompassing WT1, and × in the 11p13 region indicates the second WT1 mutations (K and N). Explanation for panels A–G, J, and M is described in the discussion.