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ANGELMAN SYNDROME

ANGELMAN SYNDROME. Victoria Roznak Francis Velez. Discovery. Harry Angelman, British pediatrician, discovered AS in 1965 with three children that seemed to be affected by the disorder with these characteristics: Uncoordinated gait Lack of speech Excessive laughter and smiling Seizures

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ANGELMAN SYNDROME

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  1. ANGELMAN SYNDROME Victoria Roznak Francis Velez

  2. Discovery • Harry Angelman, British pediatrician, discovered AS in 1965 with three children that seemed to be affected by the disorder with these characteristics: • Uncoordinated gait • Lack of speech • Excessive laughter and smiling • Seizures • Mental retardation

  3. What is Angelman Syndrome? • A complex genetic disorder that affects the nervous system • It is related to chromosome 15 • Affects an estimated 1 in 12,000 to 20,000 people • In most cases, this disorder cannot be inherited • Random event caused by formation of reproductive cells or early fetal development

  4. Genetic Mechanisms That Cause AS • UBE3A, located on chromosome 15, were identified as the cause of Angelman Syndrome • AS can be caused be: • Large deletion in maternal chromosome • Inherited by father of 2 paternal chromosomes • Imprinted defect

  5. Bibliography • http://www.reference.com • http://ghr.nlm.nih.gov • www.angelman.org • www.wikipedia.com • www.dictionary.com

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