Andrew has Angelman Syndrome: im ill and its mummys birthday

Thursday, December 13, 2007

im ill and its mummys birthday

well today is the 13th december its my mummy birthday so happy birthday mummy,but me im ill so mummy has been up all nite looking after me shes now feeling a little ill,im ill and i get to spend the day with mummy on her birthday yippee xxxx

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What is Angelman Syndrome

A rare genetic/neurodevelopmantal disorder named after Dr.Harry Angelman,an English Paediatrician who first described the syndrome in 1965.
More commonly the cause is a deletion in the maternal chromosome 15 (70% of cases) but Angelman Syndrome can be caused by Paternal UPD (Uniparental disomy) (2-3%), UBE3A mutation (discovered in 1997) (5%),imprinting defects (2-5%). There can also be no known cause for Angelman Syndrome (20%). In some cases Angelman Syndrome can be hereditary. Angelman Syndrome affects both boys and girls.
A person with Angelman Syndrome has a normal life expectancy.