Dr. Harry Angelman an English pedestrian was the first to discover Angelman Syndrome (AS), but before it was called AS it was known as “Happy Puppet Syndrome.” The reason for that name was because, when Dr. Angelman had traveled to Italy he saw an oil painting of a boy with a puppet. Dr. Angelman said “The boy's laughing face and the fact that my patients exhibited jerky movements” he came up with that name. When he was going to write about it Angleman Syndrome he had titled a paper the “Puppet Children, a lot of people were not happy with that name, but it would get the point across on why that title. The symptoms were also a reason why the name was first called “Happy Puppet Syndrome.” The characteristic of Angelmans Syndrome are frequent smiles and random outbursts of laughter and many have happy, excitable personalities, small head size, and light pigmentation in hair, skin and eyes. Symptoms that indicates Angelmans Syndrome are inability to walk, move or balance well, developmental delays, such as lack of crawling or babbling at 6 to 12 months, intellectual disability, and lack of or minimal speech. There is also stiff or jerky movements, seizures, usually beginning between 2 and 3 years of age, flatness in the back of the head, tongue thrusting, and unusual …show more content…
This can happen anywhere on the length of the gene, however, two specific regions on Exon9 and Exon16 seem to be more prone to mutations. The UBE3A mutation is hereditary, which accounts for multiple AS births within one family. This was an important discovery and ultimately paved the way for the delineation of several mechanisms that caused AS, all by disruption of a gene located on chromosome 15. It was learned that the syndrome can be caused by two copies of the paternal chromosome 15 and that a regulatory region can be also disrupted to the syndrome. The chromosome deletion was identified, the AS gene, UBE3A, was