Figure 3.

Chromosome 5;6 translocation

(A) Graphic representation of the results obtained from the quantitative analysis of derivative chromosomes by short-read and long-read sequencing, which demonstrated chromosome breakpoints on Chr5 and Chr6 and flanking genes (left). Final positions after rearrangements are shown on the right.

(B) Breakpoint sequences were confirmed by Sanger sequencing of PCR products of the regions flanking the breakpoints in blood cells from F1 II.2. Connecting arrows from Der 5 to Der 6 indicate hg38 coordinates at breakpoint and final reattachment locations on both chromosomes, with novel sequences inserted at junctions. There is a 3 bp loss in CTNND2 intron 2 between derivative chromosome 5 and derivative chromosome 6. A loss of approximately 30 kb on chromosome 6 is in a non-genic region.