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. 2008 Aug 7;118(9):3143–3150. doi: 10.1172/JCI35798

Figure 4. FISH analysis reveals a chromosomal rearrangement.

Figure 4

Metaphase cells showing a rearrangement of the TCR-β locus by FISH. (A) Normal copy of chromosome 7 with intact TCR-β (colocalization of a red-green probe) (s). Rearrangement partner chromosome 1 (blue) showing the translocated portion of the probe containing the remainder of the 732-kb region upstream of the TCR-β breakpoint cluster (t). Derivative chromosome 7 with intact portion of the probe (red signal) covering 320 kb downstream of the TCR-β breakpoint cluster region with a residual signal from the probe (green signal) covering the proximal region 732 kb upstream from the TCR-β breakpoint cluster region (u). The insertion was located in the STIL-TAL1 region (1p32–1p36). Additional probes show (B) the red/green signal of the normal TCR-β region probe with the inserted fragment (v, green only), (C) the position of chromosome 1 using the 1p36 (false-colored orange) and 1q25 probe sets (false-colored blue), and (D) an overlay of the 2 previous pictures, locating the insertion proximal to 1p36. (E) Red/green signals of the normal (w) and abnormal (x) TCR-β region probes and normal-sized STIL-TAL1 (y) and large STIL-TAL probe signal apparently encompassing the inserted green TCR-β region probe signal (z). Original magnification, ×100.