Figure 4.
Three-color FISH analysis of SMARCB1 (22q11) and neighboring regions. Normal control blood leukocytes at interphase (a) and metaphase (b), representative renal medullary carcinoma cases with hemizygous loss (loss of one set of red-orange-green signals) and concurrent translocation (split of the other set of signals) (c-d), case #12 with hemizygous loss and concurrent inversion in the other allele (e), case #6 with two sets of split signals (f), representative cases with homozygous deletion (g-i), and a representative case showing diploid pattern without structural and copy number alteration (j). The arrowhead in (i) marks a tumor nucleus that completely lost all signals whereas the arrow marks the nucleus of an internal control cell.