Supplementary Figure 3: SNORD118 copy number analysis in F819.

Copy number analysis was performed in F819 using DNA from the two affected individuals (F819_1 and F819_2) and their mother (F819_M; paternal DNA was not available). These data indicate loss of the paternally derived allele in the affected individuals. The parents from three other LCC families were used as comparators, with F619_M chosen as the calibrator sample.