Fig. 4

FISH analyses. 1. MCB1 chromosome profile. Light dashed vertical line presenting chromosome MCB band position. On the left side of the figure is normal chr1. showing normal banding pattern. Note aberrant banding pattern on the right side. 1q42.3qter insertion in 1q32.2 position indicated by an arrowhead. Note that a complete MCB band (1q42.3qter) in BIO-Cy5 (yellow) is inserted more proximal to centromere. 2. BAC FISH analysis. RP5-940 F7 (red) 1q42.3, RP11-391H5 (yellow) 1q42.2, RP11-100E13 (blue) 1q42.12, RP11-286E7 (green) 1q32.3. N – normal chr1, INSERTION – aberrant chr1. Note: inserted segment (1q42.2q44) has an normal direction. 3. RP11-99 J16 (green) 1q42, RP11-438G15 (blue) 1q41, RP11-534 L20 (red) 1q32.1. Red arrowhead indicating aberrant chr1. 1q32.1q32.3 deletion and 1q42.2q44 insertion (missing red signal and misplaced order of blue and green signals). N-normal chr1. Del-aberrant chr1. 4. Schematic representation of the detected aberrations. N#1 normal chr; Del#1 aberrant chr. On the long arm of chromosome 1 there are four break points (1q32.1, 1q32.3, 1q44 1q42.13 – red dotted line on N#1) resulting in a deletion of the entire 1q32.2 (shown on Del #1). In addition there is a 1q42.2q44 segment insertion (yellow) on the position of the 1q32.2 deletion — leading to more distal position of 1q32.3-q42.13 (green). Telomeric segment 1q44 (blue) is not affected by this complex rearrangement