Fig 2. Chromosome 7 ideogram and breakpoint confirmation.

(A) Arrows showing the breakpoint locations. Greek letters facilitate interpretation of the resulting pericentric inversion. Sanger sequencing results for the normal and breakpoint spanning amplicons for (B) the 7p15 and (C) the 7q21 inversion boundaries. The vertical dashed read line highlights the breakpoint. For ease of comparison a dashed black line has been drawn onto the normal sequence. (+): sense strand sequence; (-): antisense strand sequence. The inversion has resulted in an AT dinucleotide duplication which is shown arbitrarily assigned to the 7p15 breakpoint.