Fig. 4: Partial karyotypes of patient no 2 demonstrating the different types of transient 1q12 aberrations that continually regenerate gains of 1q21 and MYC.
From: An acquired high-risk chromosome instability phenotype in multiple myeloma: Jumping 1q Syndrome
a Chromosome 8 showing metaphase FISH of JT1q12 to the der(8) hybridized on left with 1q12 (red) and 1q21 (green) and on right the same chromosome hybridized with MYC (red) and 16p (green). b The der(8) (left) hybridized first with chromosome 1 probes demonstrates a direct duplication of 1q12 (red) and 1q21 (green). Importantly, the hybridization with FISH probes for MYC and 16p (on right) shows a cryptic duplication and concomitant amp of the region spanning 1q12-1q21, MYC, and 16p (arrows). c Breakage at 1q12 and the loss of 1q distal to 1q12 resulted in a sister chromatid fusion (SCF) at 1q12 on the distal 8q. d The SCF aberration resulted in the subsequent formation of a dicentric 8 showing 1q12 (arrow) as the bridging point connecting the dicentric 8. e The outcome of BFB cycles of the dicentric (8) is the amplification of MYC and 16p in an inverted duplication pattern typical of BFB amplification. This chromosome has three copies of MYC and two of 16p. f A dispersed insertion of MYC and 16p into one of the previously normal chromosomes 1. g The regeneration of additional copies of 1q21 is demonstrated by a triradial of 1q12 (red) on distal der(8q) showing an extra copy of 1q21 (green) transiently attached to each chromatid of the der(8q). Note also in this cell the presence of an extra acentric lagging copy of 1q with signals for both 1q12 (red) and 1q21 (green)
