Figure 3.

Proband 4 has several large structural changes on chromosome 6

(A) Ideogram with annotation of chromosome 6 breakpoints identified in proband 4, including pericentric inversion breakpoints (pinv1, pinv2) and multiple breakpoints of a complex genomic rearrangement (red arrows). Ideogram is from the NCBI Genome Decoration Page.

(B) Schematic of proband 4’s maternal (pink box) and paternal (blue box) chromosome 6 structures. The maternal structure matches reference, while the paternally inherited derived chromosome 6 has pericentric inversion breakpoints (pinv1/pinv2) and a complex cluster of rearranged fragments (DCAGHFEB).

(C) Zoomed-in view of (B), showing the schematic of additional fragmentation near 6q22.31–6q23.3 (vertical dashed lines). Asterisks indicate inverted sequence as compared to hg38 reference. See Table S6 for additional breakpoint coordinates and details.

(D) Alignment of four sequential paternal contigs to reference chromosome 6 identified a pericentric inversion spanning 6p22.3 to 6q24.2 and a 9.3 Mb region near 6q22.31–6q23.3 with several additional breaks.

(E) Zoomed-in view of (D), showing additional fragmentation near 6q22.31–6q23.3.