Deletion identified in patient 7 and 8. (a) 10q24.3 deletion in patient 7 that comprises only one gene, FBXW4. The region associated with SHFM3 (green) and FGF8 (red), a gene known to play a role in limb development, are highlighted at the bottom. (b) Overview of FBXW4 and the six selected conserved noncoding elements (in red). The conserved element containing the substitution (
Supplementary Figure S2
online) is highlighted by a red box. (c) 7p22.1 deletion in patient 8. The candidate gene, RAC1, is highlighted in blue. The coordinates of the aberrations are given in GRCh37. Segmental duplications (Segdups) and genes in or near the aberrations are marked at the bottom of each figure.