Figure 2.

Multilocus pathogenic variation and biallelic AR disease traits Filled diamond indicates affected individual of either sex. Two representative autosomes from the 22 are shown. Four different ways to obtain a homozygous disease gene locus are shown: (a) Mendelian segregation from carrier unrelated parents, (b) uniparental isodisomy (UPD), (c) deletion CNV, and d) identity-by-descent from consanguineous parentage. Rare variant pathogenic alleles are represented as red minus signs and new mutation depicted by a lightning bolt.