Figure 1.

Multilocus pathogenic variation and de novo mutation Standard pedigree symbols are used with squares representing males and circles females; filled squares and circles depict an individual with a clinical disease phenotype. Below these pedigree symbols are shown representative X chromosome and 1 representative of the 22 autosomes each with 5 different gene loci A through J. The plus (+) symbol refers to wild type and variant alleles at the gene locus. Rare variant pathogenic alleles are represented as red minus signs and new mutation depicted by a lightning bolt. AD, autosomal dominant; XL, X-linked.