Figure 3. Genetic analysis of the proband. A: Sanger sequencing electropherograms showing (top to bottom) TULP1 reference sequence (NM_003322.3), paternal electropherogram showing wild-type sequence, maternal electropherogram revealing heterozygous duplication, c.524dupC (arrow), and proband electropherogram showing homozygous duplication (arrow) of the preceding C nucleotide. B: Single nucleotide polymorphism (SNP) array showing the absence of heterozygous calls on chromosome 6, corresponding to uniparental isodisomy.