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Prader-Willi syndrome(PWS)is caused by alterations of the paternally derived chromosome 15 or by maternal uniparental disomy.The gene for the small nuclear ribonucleoprotein polypeptide N(SNRPN)is expressed only from the paternally derived chromosome 15,due to epigenetic imprinting.The SNRPN gene is not expressed in any patients with PWS regardless of the underlying cytogenetic or molecular causes. |
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