genetics
Last reviewed 01/2018
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