Figure 1. MLL partial tandem duplication (PTD).

The germline (GL) MLL locus is shown; exons 1–16 are indicated (the remaining 3’ exons are omitted for clarity). Regions of Alu repeats are indicated, as is the MLL breakpoint cluster region (bcr). Centromere to telomere orientation is indicated. The MLL partial tandem duplication (PTD) is depicted.A recombination event occurs between Alu sequences in intron 1 and intron 6, leading to a duplication of exons 2–6 between exons 6 and 7. Exon sizes and intronic distances are not to scale.