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Hereditary syndrome uniparental disomy (UPD)
For most chromosomes, uniparental disomy (UPD) occurs without any serious clinical consequences. However, for chromosomes with genetic imprints, the expression of some genes with genetic imprints from the father and mother is different in the case of UPD, which can lead to the expression of some genetic syndromes.
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Cardiology Pediatrics Orthopedics