Fig. 2

High-resolution SNP array analysis shows the presence of a deletion at 18p11.32p11.22 and a microdeletion at 18q23 in the proband. The left panel (A) showcases log R ratios (LRR) across chromosome 18, offering a normalized measure of signal intensity to evaluate CNVs. For each SNP, 0 indicates a typical, diploid copy number, while positive and negative values suggest copy number gains and losses, respectively. The right panel (B) depicts B allele frequency (BAF) values, assessing the proportion of two alleles present at a specific genomic locus. BAF values of 1, 0.5, and 0 correspond to homozygous for the reference allele (BB), heterozygous (AB), and homozygous for the alternative allele (AA) genotypes, respectively. The LogR plot displays a significant decrease in signal intensity in the regions 18p11.32p11.22 and 18q23, suggesting the presence of two deletions (copy number of x1). Likewise, the BAF plot confirms the loss of heterozygosity, affirming the existence of the two hemizygous deletions