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Imprinting Disorders

Meaning

Imprinting Disorders are a group of genetic conditions caused by the improper regulation of gene expression due to defects in genomic imprinting, an epigenetic process where certain genes are expressed exclusively from either the maternal or paternal allele. This results in the loss or disruption of the normal monoallelic expression pattern, leading to clinical syndromes characterized by growth abnormalities, developmental delay, and metabolic disturbances. These disorders highlight the critical role of epigenetic mechanisms in human health and development, demonstrating how environmental factors can potentially influence the delicate machinery of gene regulation. Understanding these disorders provides insight into the vulnerability of the epigenome.