Figures & data
Figure 1 University of California, Santa Cruz genome browser view (GRCh37/hg19) of the deleted region in chromosome 22q13 identified by genome-wide array analysis.
Notes: The red box indicates the chromosomal location schematically depicted. The relative positions of involved genes in the deleted region are shown. The green color indicates OMIM disease-causing genes, including SHANK3. Other involved genes are involved in diseases with autosomal recessive inheritance.
Figure 2 Transversal T2-weighted magnetic resonance imaging of the brain of Patient 1, showing hypoplasia of the cerebellar vermis.
Table 1 Behavioral and psychopathological findings in both patients