Figure 4. Genetic analyses of the case 2 of chondroid syringoma. (A) Partial karyotype showing the del(8)(q12q23) and the normal chromosome 8 (breakpoints are shown by arrows). (B) aCGH showing the deletion in the q arm of chromosome 8. Based on the hg19 assembly, the deletion started at position Chr8:57120365 in intron1 of PLAG1 and ended at Chr8:116661489 in exon 1 of TRPS1. (C) Gel electrophoresis showing the amplified TRPS1-PLAG1 fragments using the primer combinations TRPS1-200F1/PLAG1-498R1 (lane 1) and TRPS1-318F1/PLAG1-458R1 (lane 2). (D) Partial sequence chromatograms of the cDNA amplified fragment showing the junction positions of exon 1 of TRPS1 with exon 2 of PLAG1 and exon 1 of TRPS1 with exon 3 of PLAG1. E) FISH analysis on metaphase spreads with PLAG1 probe (red signal) and TRPS1 probe (green signal) showing that the TRPS1-PLAG1 fusion gene was on the del(8)(q12q23) (yellow signal). A copy of PLAG1 (red signal) and TRPS1 (green signal) is on chromosome 8.