Genetics Clinical Grand Rounds: "Regions of Homozygosity in Our Genome: Consanguinity, Uniparental Disomy and Recessive Single Gene Mutations"

Chromosomal microarray platforms with single nucleotide polymorphism (SNP) probes can detect regions of homozygosity. This confers a potential utility in revealing consanguinity, autosomal recessive diseases and uniparental disomy related disorders.