12 August, 2004

Special Child: Disorder Zone Archives - Angelman Syndrome

Special Child: Disorder Zone Archives - Angelman Syndrome

Hmmm I wonder if this is what Jack has? Angelman syndrome.

Angelman syndrome is a rare neuro-genetic disorder that is predominantly (70-75% of cases), caused by deletions on chromosome 15 given by the mother.
Other classes of AS that also lead to the typical clinical features of the syndrome are:
- unusual chromosome rearrangements (2%),
- inheritance of two paternal 15's and no maternal 15 present (4%),
- mutation in the imprinting center or UBE3A gene (3-5%)
- unknown causes (15%).

Currently, it is estimated that the incidence of AS is somewhere between 1 in 15,000 to 1 in 30,000, and the greatest majority of cases are of Caucasian origin. Males and females are affected equally.
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