Figure 2. The ddPCR results of affected family members and pedigrees of families with inherited CNVs. Squares represent men, circles indicate women; black and white symbols represent affected and unaffected individuals, respectively; arrows refer to probands. The left column shows the ddPCR results of the mother carrying CNV of TSPAN12 exons 1–3 heterozygous deletion and the pedigree of the family. The right column reveals the ddPCR result of the father harboring LRP5 exons 19–21 heterozygous deletion and the pedigree.