Fig. 5

Optical Map of patient ID 3: Patient’s optical map (bottom) is compared to a reference map (up); matched labels between patient’s and reference maps are reported as grey lines connecting them. a der(18): Four breakpoints have been detected on chromosome 18 (red arrows), resulting in a complex rearrangement: A 13 kb of non-identified material inserts at 18q12.3, BP1 level (yellow unmatched labels in the first in red box), followed by a 173.8 kb portion from 18q21.1 (BP2-BP3 region). A 180 kb region from 6q27 inserts with opposite orientation (yellow unmatched labels in the second red box) and rejoins with chromosome 18 at BP4 level. BP1-BP2 (3.65 Mb) genomic portion results to be deleted (first blue box), while BP3-BP4 portion was inserted in chromosome 2, at 2q37.1 (second blue box). SETBP1 is represented as a green bar on the top of the image, interrupted by the BP1-BP2 deletion. b der(2): Five breakpoints have been detected on chromosome 2 (red arrows), resulting in a complex rearrangement: BP2-BP3 region inverts on itself, and associates with BP1, resulting in the BP1-BP2 deletion (27 kb). 18q21.1 region inserts in inverted orientation (yellow unmatched labels in the red box), followed by BP4-BP3 region also inserted in opposite orientation (2q37.3q37.1). BP3 physically associates with BP5, resulting in BP4-BP5 deletion (1.1 Mb, blue box). c der(2): Five breakpoints have been detected on chromosome 2 (red arrows), resulting in a complex rearrangement: BP2-BP3 region inverts on itself, and associates with BP1, resulting in the BP1-BP2 deletion (27 kb). 18q21.1 region inserts in inverted orientation (yellow unmatched labels in the red box), followed by BP4-BP3 region also inserted in opposite orientation (2q37.3q37.1). BP3 physically associates with BP5, resulting in BP4-BP5 deletion (1.1 Mb, blue box).