Andrew has Angelman Syndrome: thank you kim

Thursday, January 31, 2008

thank you kim

aw thank you kim he looks so cute walkin ma wee boy is just a cutie xxxxx

1 comment:

Anonymous said...: no problem, i have now sorted out the videos so that they are all of andrew walking in the hospital love kim x; January 31, 2008 at 7:15 AM

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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.