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Genomic Imprinting
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IGF2
Expressed from the paternal allele; effects include growth promotion and is implicated in Beckwith-Wiedemann Syndrome.
Silver-Russell Syndrome
Primarily maternal origin; effects include intrauterine growth retardation, poor postnatal growth, and distinctive facial features.
Angelman Syndrome
Maternal origin; effects include severe intellectual disability, seizures, and ataxic gait.
Prader-Willi Syndrome
Paternal origin; effects include intellectual disability, hypotonia, and hyperphagia.
Russell-Silver Syndrome
Primarily Maternal origin; effects include short stature, limb length discrepancy, and feeding difficulties.
H19
Expressed from the maternal allele; effects include regulation of growth and is implicated in Beckwith-Wiedemann Syndrome.
Beckwith-Wiedemann Syndrome
Can be of paternal or maternal origin; effects include overgrowth, macroglossia, and an increased risk of embryonal tumors.
UBE3A
Expressed from the maternal allele; effects include a role in synaptic function and is implicated in Angelman Syndrome.
Transcriptional Imprinting
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.
SNRPN
Expressed from the paternal allele; effects include a role in brain development and is implicated in Prader-Willi Syndrome.
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