Autor: Dandan Li
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Case Report: Prenatal diagnosis and genetic counseling for a homozygous segment spanning chromosome 6q25.3q27 with normal phenotype
BackgroundRuns of Homozygosity (ROH) are long, uninterrupted stretches of the genome in which an individual is homozygous at virtually every assayed variant. Uniparental disomy (UPD) is an epigenetic anomaly in which both copies, or a portion of a pair…