Genetic Classes of Angelman Syndrome
September 10th, 2007
| Large typical deletion | 70% | Hypopigmentation is common |
| UBE3A mutation | 5-7% | Possibility of normal carrier mother |
| Paternal uniparental disomy | 2-3% | Inheritance of both 15s from father |
| Imprinting defect | 3-5% | Some have IC deletion, some do not |
| Other chromosome abnormalities | 2% | Unusual chromosome rearrangements |
| Unknown | 15% | All diagnostic tests negative (FISH, methylation, UBE3A mutation analysis) |
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