Essay About Angelman Syndrome

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Saad Ahmad, Vihas Gowreddy, Taaha Kamal Angelman Syndrome Project Mrs. Salinas
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Table of Contents
Page 1: Disease Background
Page 2: Symptoms
Page 3: Treatments
Page 4: Current Research
Page 5: Answers
The disease Angelman Syndrome, named after the physician Harry Angelman, was first diagnosed in 1965. It is now known that the disease results from the loss of function of UBE3A, a gene. One is normally inherited from each parent. The copy inherited from the mother is active in certain areas of the brain. If this copy of the gene UBE3A is lost due to chromosomal change or gene mutation, the lost gene will not have active copies in parts of the brain. A majority (70%) of Angelman syndrome cases happen when a segment of the maternal chromosome 15 is lost or destroyed. A minority of the disease is caused by a mutation or loss of function of the mother’s copy of the UBE3A gene. The majority of cases result from uniparental disomy, which is when the son or daughter inherits two copies of chromosome 15 from his or her father. Translocation, or chromosomal rearrangement, can also cause the disease. Most cases of this disease are not inherited, instead are a result of deletion in the maternal chromosome 15. Across 1. 2 copies of chromosome 15 are inherited from the father Down 1 Person who first diagnosed this disease 2 Disease the magazine is about 3 A gene 4 a minority of this disease is caused by this 5 Chromosomal rearrangement DISEASE BACKGROUND PAGE 1
3
Answers on Page 6
This Child exhibits Angelman syndrome because of the tongue thrusting, small head size, and the crossing of eyes that is present in this picture. There are many different symptoms for Angelman Syndrome such as, seizures, usually beginning between 2 and 3 ...

... middle of paper ...

...elp patients to sleep independently. ALTERNATIVE TREATMENTS
Stormy Chamberlain is a research assistant professor at UConn Health Center. She leads a team that made new stem cell lines from the cells of Angelman syndrome patients.
We’re on the Web!
See us at: Web site address
CURRENT RESEARCH PAGE 4
Word Search
Saad A., Vihas G., Taaha K.
ZEUS DRIVE, OLYMPUS, ATLANTIS, 000000
Phone – (425) 695-0165
Fax – (555) 235-0125
Angelman@olympus.com
ANSWER CHOICES FOR MAZES AND PROBLEMS PAGE 5
UNSCRAMBLE
1. Light Pigmentation
2. Tongue Thrusting
3. Crossing of eyes
4. Small head size
5. Seizures
6. Jerky Movements
CROSSWORD
1. Uniparental disomy
2. Harry Angelman
3. Angelman Syndrome
4. UBE3A
5. Mutation
6. Translocation
Citations:
http://www.angelman.org/research/researchsummaries/ http://www.mayoclinic.org/diseasesconditions/ angelmansyndrome/
basics/definition/con-20033404

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