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Genetics

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Chromosome 15 has regions which are imprinted. For healthy development a foetus must inherit a maternal and a paternal copy of the imprinted region. One such region is 15q11-13:

  • deletion of the maternal 15q11-13 results in Angelman syndrome

  • deletion of the paternal 15q11-13 results in Prader-Willi syndrome:
    • this accounts for 60% of Prader-Willi cases

  • maternal uniparental disomy of chromosome 15 results in Prader-Willi:
    • this accounts for 30% of Prader-Willi cases

  • paternal uniparental disomy of chromosome 15 results in Angelman syndrome

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The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

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