Figure 3: FISH analysis on peripheral blood (A-B) and buccal smears cells (C-D): A) probes whole chromosome painting (red) and tel21q (green) showing a normal chromosome 21 and a r(21); B) probes alpha-sat 13/21 (green) and locus specific 21q22 (red) showing breakpoints at 21p11 and 21q22.2; C) probes locus specific 21q22 (red) and tel21q (green) showing a normal chromosome 21 and a r(21); D) probes locus specific 21q22 (red) and tel21q (green) showing a monosomic cell.