Screening of 22q11.2DS Using Multiplex Ligation-Dependent Probe Amplification as an Alternative Diagnostic Method

Figure 3

An MLPA ratio chart showing a 3 Mb deletion from CLTCL1 to LZTR1 and duplication of YWHAE. The black dots display the probe ratios and the error bars with 95% confidence intervals. The blue box plots display genes within the 22q11.2 region whereas the green box plots display other regions associated with 22q11.2DS. The red and blue horizontal lines indicate the arbitrary borders for loss and gains at a ratio of 0.7 and 1.3, respectively. The yellow dots below the red horizontal line indicate duplication of the gene whereas the yellow dots above the blue horizontal lines indicate duplication of the gene. Map view locations are displayed on the -axis while the -axis shows the ratio results.