Inverted duplication organization.

<p>(A) Model of duplicated sequences (orange arrows) separated by disomic spacer sequence (grey line). The end of the inverted duplication may terminate in a telomere (black triangle) or a translocated chromosome (blue). The site of the terminal deletion is shown relative to a normal chromosome. (B) EGL044's inverted duplication of chromosome 2 is detectable by chromosome banding. (C) The 5.8-Mb terminal deletion and 42-Mb inverted duplication of chromosome 2 are detectable by low-resolution array CGH <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1004139#pgen.1004139-Baldwin1" target="_blank">[53]</a>. Note that the 2,047-bp spacer region is not visible. Log2 ratios of oligonucleotide probes are indicated by dots; normal-copy number (black), duplication (red), and deletion (green) regions are shown. (D) PCR of the disomy-inversion junction (lane 2) and the inversion-telomere junction (lane 4) amplifies genomic DNA from EGL044, but not control genomic DNA (lanes 3 and 5). Lane 1 is GeneRuler 1 kb Plus DNA ladder (Thermo Scientific Fermentas #SM1333).