Angelman syndrome facial features


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Angelman syndrome - Better Health Channel

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The original patients reported by Angelman all had severe learning disability, epileptic seizures, ataxia, absent speech, and dysmorphic facial features with a.

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Facial characteristics of Angelman syndrome may be subtle but sometimes include a small head (microcephaly), pointed chin, wide jaw, widely spaced teeth .

Angelman Syndrome

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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.

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Views: 7971 Date: 2018-04-19 Favorited: 98 favorites

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