Doctor insights on:
Angelman Syndrome Dominant Or Recessive
Angelman syndrome: The answer is neither- most cases are not inherited at all. http://ghr.nlm.nih.gov/condition/angelman-syndrome ...Read more
Dx 90% lab, 10% PE: A clinical geneticist can make a diagnosis by observing the combination of unusual behavioral features and pattern of developmental delay, usually by 2 years of age. 90% confirmed by convoluted genetic testing, 10% by clinical presentation alone. Treatment includes the full range of therapies for developmental delay, especially speech therapy initially concentrating on nonverbal communication. ...Read moreSee 1 more doctor answer
Sometimes: Some cases are due to a mutation carried by the mother. Most are due to spontaneous mutations or epigenetic events in the fertilized egg. So, the risk of Angelman may be inherited, but the disease may be genetic or due to epigenetic factors. It is one of the most complex genetic mechanisms yet discovered, and a clinical geneticist must analyze whether other family members are at up to 50% risk ...Read moreSee 1 more doctor answer
Suggestions: A complete list of medical, therapeutic & educational treatments & supports is found on www.Angelman.Org. A parent can fill in their demographics & their child's genetic findings from fish test of chr 15 or cgh, +/- methylation to receive support & suggestions. Or they can call 617-726-6540, the angelman syndrome clinic at mass. General in boston. ...Read moreSee 1 more doctor answer
Happy Puppet Syndrom: As is a genetic disorder, a chromosome 15 deletion, characterized by intellectual and developmental delay, sleep disorder, seizures, jerky movements, abnormal gait, autistic behavior and frequent laughter or smiling.No cure is available, anti-seizure medications can be given for the seizures. ...Read more
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