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.
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Grand Rounds