Fig. 3. Genetic characterization of 5q31.3 microdeletion syndrome in our cohort and previously reported cohort.

A Schematic representation of chromosome 5q31.3 indicating the deleted regions in Patient1. B Genome map captured from the UCSC genome browser (https://genome.ucsc.edu/). The custom tracks reveal the deletion regions from one currently reported patient and six previously reported patients depicted as red lines and a blue line, respectively. C Magnified view of the shortest region of overlap (SRO) depicted as the yellow box. SRO contains PURA and IGIP genes.