ACMG guidelines

Unraveling uniparental disomy

Chromosomes from one parent only: this is uniparental disomy (UPD)! Normally, every human has 22 pairs of chromosomes (called homologous chromosomes or homologs or autosomes) plus one couple of sexual chromosomes (which are two X chromosomes in females and one chromosome X plus one chromosome Y in males). For normal development, we need that, for

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