Figure 3. Verification of the novel heterozygous large deletion in III-1, III-4, III-5 and III-9 by quantitative real-time PCR (qPCR).

Copy number ratio of the exon 5 Figure 3A., exon 9 Figure 3B., exon 12 Figure 3C. and exon 16 Figure 3D. in THE control and in A normal family member (III-2) is nearly 1, and the Copy number ratio in proband (III-1) and other affected family members (III-4, III-5 and III-9) is approximately half. Actin DNA was used as a loading control.