219897.fig.004a
(a)
219897.fig.004b
(b)
Figure 4: Detailed characteristics of Alu-mediated MSH2 exon 6 deletion. (a) Scheme of the MSH2 deletion showing that the 9655-bp deletion is located between two AluSX elements in introns 5 and 6. (b) Alignment of the two AluSX elements reveals a core 11-bp sequence identical in both introns at the breakpoint.