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

Figure 2

An MLPA ratio chart showing deletions of LZTR1 (LCR C-D), TOP3B (LCR D-E), RTDR1 (LCR D-E), BID4, PPP1R3B, MSRA, TCEB1P3, and RPH3AL as well as duplications of PPIL2, EHMT1, and YWHAE. The black dots display the probe ratios and the error bars with 95% confidence intervals. The red dots display deletion, and the yellow dots display duplication. The blue box plots display genes within the 22q11.2 region whereas the green box plots display other regions associated with 22q11.2DS. A map view of all the locations are displayed on the -axis while the -axis shows the ratio. The red and blue horizontal lines indicate the arbitrary borders for loss and gains at a ratio of 0.7 and 1.3, respectively.