Figure 6.

SNP array and genotyping with polymorphic microsatellite markers in patient 3 and her parents. Blue dots with a value of 0, 0.5, or 1 represented SNPs with AA, AB, or BB genotypes, respectively. The red line was used to determine the copy number variation in the targeted region, and it was located at 0.25–0.5 when the targeted region was a single copy. In patient 3, a homozygous deletion near NPHP1 caused scattered SNP loci distribution. In her mother, the targeted region was a single copy. Partial detailed information on the SNPs near NPHP1 are also shown. NC referred to no signal displayed. The region in the yellow background represented the deletion (including NPHP1). The genotyping in the red font indicated the allele that was inherited from her father.