Fig. 3.

Schematic representation of our patient’s deletion compared with previously reported patients. Top. The screenshot spans 2.5 megabases of chromosome 5q13.2-q13.3. UCSC genes (GRCh37/hg19) are shown. Middle. Brown bars indicate de novo deletion of patients reported in the literature that have been characterised by molecular cytogenetics. Our case is represented by a red bar. The light red box indicates the common deleted region of ~101 Kb among patients sharing the 5q31.3 microdeletion syndrome phenotype. Bottom. Magnified view of breakpoint boundaries detected by array-CGH analysis using a 180 k Agilent kit. The deleted regions aligned with the UCSC map (hg19) are shaded in red