Figure 2
From: A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability
Characterization of the chromosomal rearrangement leading to the microdeletion of the SEMA5A gene. (a) Partial G-banded karyotype showing the translocation t(5;22)(p15.3;q11.21) of the proband. (b) Results of the SNP-array (Illumina Human Omni 2.5) analysis showing the de novo 861-kb deletion (chr5:8205612-9068974 hg19) of the region 5p15.3 including the seven last exons of SEMA5A. Based on informative SNPs located within the deletion, we ascertained that the deletion was on the father’s chromosome. Each dot shows log R ratio (LRR; in red), the B allele frequency (BAF; in green), and the copy number (CN; in blue).
