Fig. 5

Deletion and duplication breakpoint classes identified in our study. a Size and breakpoint location of deletion and duplication patients from the 3q29 Project. Red—3q29 deletion, blue—3q29 duplication. b–f The breakpoint structures of deletions in probands that were categorized as: b Class I. c Class II. d Class III, and the breakpoint structure of duplications in probands were categorized as: e Class IV. f Class V. Colored arrows represent the 3q29 segments. Red triangles—depicting the deleted region. Blue rectangles—depicting the duplicated region. g In silico maps of trios showing the NAHR region in each deletion breakpoint class. Red rectangles—proximal deletion region, blue rectangles—distal deletion region, green—intact chromosome in probands and the chromosomes inherited to the proband by the transmitting parent. PR—proximal region with respect to deletion, DI—distal region with respect to deletion