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. 2014 Jan 30;10(1):e1004139. doi: 10.1371/journal.pgen.1004139

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© 2014 Hermetz et al

This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.

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(A) Location of disomy-inversion and inversion-telomere junctions in an inverted duplication terminal deletion chromosome. (B) 18q-233c's disomy-inversion junction spans a hybrid LINE made up of L1PA2 and L1Hs elements. On a normal chromosome 18, these elements are positioned in opposite orientation. (C) Local genomic context of 18q-233c's spacer and breakpoints relative to the reference genome assembly. The distal end of the disomic spacer (grey box) includes the L1PA2, and the proximal region corresponding to the beginning of the inverted duplication (orange box) includes the L1Hs. The disomy-inversion junction sequence (black rectangles with white arrows) aligns to the distal end of the spacer (positions 1–465 of the junction) and the start of the inverted duplication (positions 140–834 of the junction). Interspersed repeats are shown as black rectangles. No segmental duplications are present in the breakpoint regions.