Figure 1

Non-to-scale diagram to explain the chromosomal rearrangement observed by Saglio et al. [ 1 ]. A) Normal 9 and 22 chromosomes displaying some sequences of interest. Aqua box represents the ABL1-intron 1 sequence. Dark-blue box denotes the ABL1 sequences downstream from intron 1. The depicted BCR gene sequences are split by the breakpoint. Duplicons were oriented according to information obtained from [2] and from the Database of Genomic Variants [http://dgv.tcag.ca/dgv/app/home (GRCh37/hg19)]. B) Proposed constitutional derivative chromosome 9 (der(9)c) carrying an inversion and a direct duplication. C) Hypothetical ancestral chromosome by which the proposed der(9)c could have been originated. D) Non-allelic homologous annealing − mainly at regions of duplicons − followed by recombination at specific points, renders the t(9;22) and a circular acentric fragment. For full explanation see text.