Angelman Syndrome

Angelman syndrome, also called happy puppet syndrome, is a factortic disease named later the doctor who first described it back in 1965. Angelman syndrome affects an estimated 1 in 10,000 to 20,000 people. The typical characteristics of a person with Angelmans syndrome acknowledge cordial retardation, blond hair, pale, deep-set eyes, a long chin, a puppet-like gait, and an the absurd laugh. This is where the nickname happy puppet syndrome is derived. (Angelman Syndrome) There is bingle necessitate cause of Angelman Syndrome. People normally have two copies of the UBE3A ingredient, unrivalled from each parent. Both copies of this element are active in many another(prenominal) another(prenominal) of the bodys tissues. In the brain, however, only the copy inherited from a persons mother (the maternal copy) is active. If the maternal copy is lost because of a chromosomal change or a gene revolution, a person will have no active copies of the UBE3A gene in their brain. This evil of gene function likely causes many of the characteristic features of Angelman Syndrome. The UBE3A gene is located on chromosome 15. Most cases of Angelman Syndrome (about 70 percent) occur when a segment of maternal chromosome 15 containing this gene is deleted. In other cases (about 11 percent), Angelman Syndrome is caused by a variation in the maternal copy of the UBE3A gene.

The OCA2 gene is located on the segment of chromosome 15 that is often deleted in Angelman syndrome. A spillage of this gene results in unusually light-colored hair and evenhandedly skin in some people with the condition. Since Ang elman Syndrome it due to the kind or delet! ion of chromosome 15, Angelman Syndrome occurs in males and females equally, and it affects all racial groups. (Angelman Syndrome) The major(ip) mutual features of Angelmans syndrome, in addition to those already mentioned above, include the lack... If you pauperization to pop out a full essay, order it on our website: OrderCustomPaper.com

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