Figure 1.
Dosage assessment of 22q11 by MLPA eletropherograms of two VCFS samples.
The MLPA data was presented in a ratio analysis format where the x axes represented fragment size in bp, and the y axes represented probe-height ratios. Squares indicated either deleted probes (height ratio <0.65) or duplicated probes (height ratio>1.35). Squares located between 0.65 and 1.35 on the y axis indicated non-deleted, non-duplicated probes. Two panels showed patients’ data as follow: A represent 3 Mb 22q11.2 deletion: B represent 3 Mb 22q11.2 duplication.
They were all confirmed by aCGH: gene views of 22q11 produced by the Agilent CGH Analytics software and showed the aberrant region, which was highlighted in color. The dots corresponded to the array targets, arranged on the y axes represented genomic position and on the x axes represented log2 intensity ratio value. C was the same case as A, D was the same case as B.
Figure 2.
The targeted aCGH results of patient B338, B279, B320, B288.
The left panel showed a whole-chromosome view of data from chromosome 22q. The Right panel showed the clustered oligonucleotide probe coverage at 22q11 genes of interest. The y axis represented genomic position of 22 chromosomes and the x axis showed the normalized log ratios. Results for oligonucleotides showing the typical copy number (log2 ratio=0±0.25) were shown in the middle, whereas those in green or red represent log ratios outside this range indicating copy number loss or gain, respectively.