PMC8155357_01
B allele Frequency, Log2 Ratio plots and CMA of a de novo heterozygous deletion of 17p13.3 in the patient with Miller-Dieker syndrome. In (A-C), the upper and the lower subplots are the copy number estimation and the B allele Frequency (BAF, allelic copy ratio) in the relevant regions. The copy number estimation is provided as log2 ratio (the upper subplots) which is calculated by log2 (Ne/Nd), where Ne is the estimated copy number and Nd is the normal copy number of the diploid (i.e., 2 for autosome). The gray dots show the Log2 Ratios of the bins and the red dots are the ones of the segments. (A-C) are the copy number Log2 Ratio and BAF plots for the proband, father and mother, respectively. The proband (A), the values of Log2 Ratio in detected region are around -1 and being recognized as a segment (red dots of -1). Meanwhile, the BAF are all closing to 0 or 1, indicating the homozygosity of this segment. A deletion of 17p13.3 is indicated by BAF band along with the lack of change in Log2 Ratio (black arrow, A). Trio analysis confirms that the deletion has occurred de novo in the proband. In (D), the deletion was verified by MS-MLPA and the loss in 17p13.3 is indicated by red rectangle.
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F1
Both the CNV analysis and CMA found a de novo heterozygous deletion of 17p13.3 which was indicated by a value log2 ratio = -1 and missing value of 0.5 in BAF (Figure 1).
PMC8155357_02