FIGURE 2.

Detection of a 14.3 Mbp heterozygous deletion at chromosome 18p11.32-p11.21 by SNP array in the SMMCI patient. (A) Schematic representation of the chromosome 18. (B–D) Analysis of the peripheral blood on the Infinium Global Screening Array for the proband (B), his father (C) and his mother (D). The red frame indicated the region of chromosome deletion. Blue dots represented “B allele frequency.” Red lines represented “log R ratio.” DGV, Database of Genomic Variants. Known reg and blue bar represented known regions in DGV. Found reg was the abnormal CNV found by the software-red bar represented deletion, green bar represented duplication, and gray bar represented the loss of heterozygosity.