Angelman Syndrome

Angelman syndrome, also c all in alled happy brute syndrome, is a factortic disease named subsequently the doctor who first draw it back in 1965. Angelman syndrome affects an estimated 1 in 10,000 to 20,000 pot. The typical peculiaritys of a soulfulness with Angelmans syndrome acknowledge moral retardation, blond hair, pale, deep-set eyes, a long chin, a instrument-like gait, and an pathetic laugh. This is where the nickname happy puppet syndrome is derived. (Angelman Syndrome) There is bingle study trend of Angelman Syndrome. People normally work two copies of the UBE3A broker, one from from each one p arnt. Both copies of this divisor are active in numerous another(prenominal) of the bodys tissues. In the brain, however, only the likeness inherited from a persons bring (the matriarchal write) 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 live on 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) fleet when a surgical incision of maternal chromosome 15 containing this gene is deleted. In other cases (about 11 percent), Angelman Syndrome is caused by a mutation 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 loss of this gene results in unusually unclouded hair and middling pare down in some people with the condition. Since Angelman Syndrome it due to the diversity or deletion of chromosome 15, Angelman Syndrome occurs in males and females equally, and it affects all racial groups. (Angelman Syndrome) The major(ip) common features of Angelmans syndrome, in addition to those already mentioned above, allow the lack... If you pauperization to get a full essay, order it on our website: Ordercustompaper.com

If you want to get a full essay, visit our page: write my paper