Often driven by maternal UPD 11, resulting in severe prenatal and postnatal growth retardation, asymmetry of the limbs, and distinct facial features. How Uniparental Disomy is Diagnosed
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UPD does not always cause health issues. If the involved chromosome does not contain "imprinted" genes, the individual may develop completely normally. However, when genomic imprinting is disrupted, it results in specific, well-documented clinical syndromes: Prader-Willi Syndrome (PWS) and Angelman Syndrome (AS) Often driven by maternal UPD 11, resulting in
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Uniparental disomy (UPD) is defined as two copies of a whole chromosome derived from the same parent.