Fig. 5

Chromosomal rearrangement in patient 2 with 46,X,t(X;4)(q21.3;p15.2). a Ideograms showing patient 2’s translocation between chr4p.15.2 and chrXq21.3. b Filtering out rearrangements shared with controls produces 33 groups of reads with patient-only rearrangements. Two of the 33 groups show chr4-chrX translocation. c. Dotplot of derivative (vertical) versus ancestral/reference (horizontal) chromosomes showing reciprocal chromosomal translocation. There are 7-kb and 4-kb deletions at the breakpoints in chr4 and chrX, respectively. There is also a 43-kb deletion in chrX. Yellow vertical lines show deletions. d Pie chart of patient-only rearrangements. e A complex rearrangement on chr11. Three dotplots at chr11q11 were linked to reconstruct a complex rearrangement with three sequence losses, chr11:54633567-54685157 (51 kb), chr11:55071498-55088834 (17 kb), and chr11:55263629-55274386 (10 kb). The latter disrupts the TRIM48 gene, which is not known to cause any diseases. Upper dotplot panel: horizontal dotted gray lines join the parts of each derivative chromosome. Green vertical lines show exons. Lower dotplot panel: vertical dotted gray lines join fragments that come from adjacent parts of the reference genome. Yellow vertical lines show deletions