Fig. 2

Cytogenetic, FISH, and RT-PCR analyses of the myolipoma. a) Chromosome 12 ideogram showing the location of the HMGA2 locus and the BACs used for FISH experiments. The investigated region is indicated as a red box. b) Partial karyotype showing the der(9)t(9;12)(p22;q14) and der(12)t(9;12)(p22;q14) together with the corresponding normal chromosome homologs; breakpoint positions are indicated by arrows. c) FISH analysis with an HMGA2 breakapart probe. The green signal (pool of the BACs RP118B13, RP11-745O10, and RP11-263A04) is moved to der(9) whereas the red signal (pool of the BACs RP11-185K16, RP11-30I11, and RP11-662G15) is seen on der(12). d) Amplification of an HMGA2-C9orf92 cDNA fragment using primers HMGA2-936F1 and C9orf92-316R1 in myolipoma (T) but not in control (C). M, 1 Kb DNA ladder (GeneRuler, Fermentas), Bl, Blank, water in cDNA synthesis. e) Partial sequence chromatogram of the cDNA fragment showing the fusion of HMGA2 with C9orf92