Figure 2

Recurrent deletions in the 4q terminal region. (A) The previously reported cardiovascular critical region (4q32.2-q34.3) are located proximal to the smallest overlapping region (SOR) defined in this study. The two regions do not overlap. The asterisk indicates the de novo variant. (B) Two additional cases with deletion overlap with the SOR. Cases 1 from Strehle, EM, et al. [30] and Case 2 from Maurin et al. [29]. All three 4q terminal deletions involved the SORBS2 gene.