Angelman syndrome facial features
Angelman syndrome - Better Health Channel
The original patients reported by Angelman all had severe learning disability, epileptic seizures, ataxia, absent speech, and dysmorphic facial features with a.
Facial characteristics of Angelman syndrome may be subtle but sometimes include a small head (microcephaly), pointed chin, wide jaw, widely spaced teeth .
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Description:Pathophysiology[ edit ] Chromosome 15 Angelman syndrome is caused by the loss of the normal maternal contribution to a region of chromosome 15, most commonly by deletion of a segment of that chromosome. Other causes include uniparental disomy , translocation , or single gene mutation in that region. A healthy person receives two copies of chromosome 15, one from the mother, the other from the father.