Figure 1. General genomic structure of the complex rearrangements triplications embedded in duplications.
(a) Copy number dosage alteration inferred from aCGH. A typical aCGH experiment is shown for a complex DUP-TRP-DUP rearrangement. Transitions of copy number dosage alterations are demonstrated by black vertical dotted arrows; the size of genomic segments defined by those boundaries vary in each individual complex rearrangement and are denoted a, b, c. The horizontal line below depicts the array data. Duplications are represented in red and triplications in blue; yellow arrows represent inverted repeats. (b) Representative figure of the genomic structure as determined by further analysis of copy number breakpoint junctions (jct1 and jct2) in five independent rearrangements using multiple molecular experimental approaches. The genomic segments involved are denoted a, b, c whereas the respective copy number gains are denoted as a’, b’, c’. These findings were corroborated by three additional independent rearrangements for which we obtained information for either jct1 or jct2 from two genomic loci. Change in orientation of the genomic segment (represented by black arrows) occurred at each of the junctions formed. DUPp: proximal transition/breakpoint of duplications; TRPp: proximal transition/breakpoint of triplication; DUPd: distal transition/breakpoint of duplications; TRPd: distal transition/breakpoint of triplications.