fig5

Figure 5. Visualization of the short region of overlaps (SROs) and probability profiling of genomic regions linked to selected traits. (A-D) (top) A screenshot covering 31.8 Mbs at 1q23.3-q31.3 shows the alignment of the deletions in our cases and in the literature. The black bars indicate cases with the selected clinical feature among those reported in del(1) cases [(A) intellectual disability, (B) microcephaly, (C) Short hands and feet, and (D) brachydactyly], while the gray bars represent cases without. The vertical yellow box indicates the proximal SRO (SRO-P, chr1:164,501,003-16,7022,133) of Chatron^[1], while the light blue vertical box represents the new SROs indicated by 1-3 defined by this study (see Table 2 for the details). (bottom) A graph showing the estimated probability distribution of the genomic location of the disease loci associated with the traits