Figure 2.

Genotype-phenotype correlation of terminal 4q deletions. The upper part of the figure presents the mapped deletion intervals in chromosome 4q31.1qter including the present case, marked with a box, and 35 additional cases from DECIPHER and the literature. The red bars delineate the deletion region for each case. Highlighted intervals indicate critical regions for common phenotypes among the cases. Depicted, from left to right, are the intervals for cleft palate (purple), congenital heart defect region 1 (light green), intellectual disability (dark green), congenital heart defect region 2 (red), and autism spectrum disorder (turquoise). Orange indicates the mapping interval of the DFNA24 locus. The middle section shows the gene content of the 4q31.1qter region. Likely disease-relevant genes overlapping with critical deletion intervals are boxed. The bottom diagram shows the deCODE recombination map, highlighting male and female recombination hotspots in the terminal 4q deletion syndrome region.