Harry Angelman Syndrome

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In 1965 Harry Angelman reported clinical findings in three children with similar, unusual, attributes. These children had what was known as “happy puppet” syndrome, but was later changed to Angelman syndrome, due to its pejorative name. Angelman syndrome is a neurodevelopmental disorder distinguished by: severe learning difficulties, ataxia, jerky movements, epilepsy, speech impairments, hypopigmentation in the hair and the skin with blue eyes, subtle dysmorphic facial features, and happy and excitable dispositions which happen to be the most prominent of all these attributes. For over twenty years there was no known initial cause that could be identified; however in 1987 Magenis identified a deletion of chromosome 15q11-13 in two patients

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