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Angelman Syndrome

Published on Nov 18, 2015

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PRESENTATION OUTLINE

1.

ANGELMAN Syndrome

BY: MATTHEW DOAN & DONOVAN HARPER
2.

Diagnosis

  • When the gene, OCA2, is deleted in chromosome 15
  • When a mutation happens in the maternal copy of the UBE3A gene
  • Two copies of chromosome 15 from the father
3.

SYMPTOMS

  • development delays
  • lack/minimal speech
  • ataxia
  • Trembling of arms/legs
  • Frequent smiling/laughing

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