Abstract
Genomic imprinting refers to an epigenetic phenomenon that leads to expression of certain genes in a parent-of-origin dependent manner. Altered gene imprinting has been associated with several well-described disorders. One of the underlying molecular mechanisms is uniparental disomy (UPD). Paternal and maternal UPD are frequently associated with clinically distinctive imprinting disorders. For instance, maternal UPD14 is associated with Temple syndrome (TS), whereas paternal UPD14 is associated with Kagami-Ogata Syndrome (KOS).
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