Fig. 4

CNV, AOH detection by SNP Microarray. CEL data files generated by the Affymetrix scanner were directly analyzed using NxClinical 6.1 (BioDiscovery, LLC) for copy number variation (CNV) and copy neutral loss of heterozygosity (CN-LOH) variants at an analytical resolution of 25 kb and 3 Mb, respectively. Clinical classification codes: Red = pathogenic, Orange = likely pathogenic, Blue = VUS. A Chromosome 5 showing the 3 mosaic deletions. B Chromosome 17 showing 17p13p11.2 LOH. C Chromosome 20 showing the likely pathogenic duplication