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Genomic Imprinting

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IGF2

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Expressed from the paternal allele; effects include growth promotion and is implicated in Beckwith-Wiedemann Syndrome.

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Silver-Russell Syndrome

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Primarily maternal origin; effects include intrauterine growth retardation, poor postnatal growth, and distinctive facial features.

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Angelman Syndrome

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Maternal origin; effects include severe intellectual disability, seizures, and ataxic gait.

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Prader-Willi Syndrome

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Paternal origin; effects include intellectual disability, hypotonia, and hyperphagia.

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Russell-Silver Syndrome

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Primarily Maternal origin; effects include short stature, limb length discrepancy, and feeding difficulties.

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H19

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Expressed from the maternal allele; effects include regulation of growth and is implicated in Beckwith-Wiedemann Syndrome.

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Beckwith-Wiedemann Syndrome

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Can be of paternal or maternal origin; effects include overgrowth, macroglossia, and an increased risk of embryonal tumors.

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UBE3A

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Expressed from the maternal allele; effects include a role in synaptic function and is implicated in Angelman Syndrome.

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Transcriptional Imprinting

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Occurs when gene expression varies depending on the parent of origin; effects include parent-of-origin-specific gene expression and can lead to imprinting disorders.

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SNRPN

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Expressed from the paternal allele; effects include a role in brain development and is implicated in Prader-Willi Syndrome.

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