William’s Syndrome is caused by a spontaneous deletion of 26-28 genes on chromosome 7, the "Williams syndrome critical area.” The deletion occurs at the time of conception and not caused by any aspect of the parent’s lifestyle prior to or during the pregnancy period.
The main diagnostic tool for Williams Syndrome is the Fluorescent in situ hybridization (FISH) test. This test analyzes chromosomes to determine the number of elastin genes an individual has on their chromosome #7. If there is a copy on each chromosome #7, the patient most likely does not have WS. If there is only one copy total, diagnosis of WS is confirmed.
Most young children with WS have facial features that include a small upturned nose, long philtrum (upper lip length), wide mouth, full lips, small chin, and puffiness around the eyes. Blue and green-eyed children with WS can have a prominent "starburst" or white lacy pattern on their iris. These characteristic facial features become more apparent with age.
• Heart and blood vessel problems
o Narrowing in the aorta (supravalvular aortic stenosis) or pulmonary arteries.
Ranging from trivial to severe (requiring surgical correction).
o Risk of high blood pressure over time.
o Periodic monitoring of cardiac status is necessary.
• Musculoskeletal problems
... middle of paper ...
3. All of the following are personality traits of someone with William’s Syndrome EXCEPT:
a. High interest in music
b. Very social
c. Fears strangers
d. Intellectual Disability
1. Williams Syndrome Association. (2014). Heart to heart: What is william’s syndrome? Retrieved March 3, 2014, from http://www.williams-syndrome.org/what-is-williams-syndrome
2. Williams Syndrome Association. Diagnosing Williams Syndrome. Available at: http://www.williams-syndrome.org/diagnosing-williams-syndrome/diagnosing-williams-syndrome; March, 6, 2014, 2011
3. Medicine Plus. Trusted Health Information for You. Williams Syndrome. http://www.nlm.nih.gov/medlineplus/ency/article/001116.htm Published 26 February 2014. Accessed 6 March 2014.
Developed Spring 2014 by:
Need Writing Help?
Get feedback on grammar, clarity, concision and logic instantly.Check your paper »
- Williams Syndrome, also known as Williams-Beuren Syndrome, is a genetic disorder caused by a deletion along chromosome seven. It is named for the two men who discovered and studied it in 1961, J.C.P. Williams of the United States and A.J. Beuren of Germany. Those with the disorder can be identified by their characteristic facial structure, the presence of cardiovascular anomalies and hypercalcemia, and a bright, outgoing personality. The exact number of those affected is unknown, however experts estimate that the probability of having Williams Syndrome is between 1 in 7,500 and 1 in 20,000, and occurs equally in men and women of every nationality.... [tags: health, genetic disorder]
1095 words (3.1 pages)
- Williams Syndrome and Brain Organization To understand the human brain, looking at behavior as an indicator of brain function has led researchers to focus on individuals with Williams syndrome (1). The limitations as well as highly developed features in behavior found in people with this syndrome have attracted investigators. The unique behavior displayed has led many to believe that it may be possible to unravel brain organization by locating the damaged areas in individuals with Williams syndrome and connect them to the behavior observed in these individuals (1).... [tags: Neurology Neurological Research Papers]
863 words (2.5 pages)
- Robin Williams is well known for his role in movies like Jumanji, and his voice for the Genie in Aladdin. When his career took off, he started adapting bad habits like drinking and drug abuse. He still played in movies despite his conditions. Robin Williams is an influential person because of his roles in movies he has played, his comedic career, and his tragic death. It all started when actor Robin Williams was born in Chicago, Illinois on July 21, 1951. When he was younger, he entertained his classmates with humor; and he was a fan of Jonathan Winters.... [tags: Robin Williams]
970 words (2.8 pages)
- If a person believes a loved one may have Asperger’s Syndrome, they should go through proper testing and, if the tests are positive, get an official diagnosis. The earlier it is detected, the better. The person then can learn coping skills and have therapy earlier on in life; it is especially helpful to have these services before puberty, however some people are diagnosed later on in life, especially females. Since both children and adults may be tested, there are Asperger’s Syndrome tests specifically for adults and those created specifically for children.... [tags: Asperger syndrome, Autism]
1085 words (3.1 pages)
- William Carlos Williams uses the examination and expression of details in The Doctor Stories to show various emotions and the readers’ reactions to those emotions. He uses positive emotions such as enchantment, pleasure, excitement, surprise, and a sense of satisfaction to express the upside of a clinical encounter. He also enables the use of negative emotions for expression - disappointment, frustration, confusion, and perplexity. In order to properly identify the varied emotions and reactions to the complex dimensions of clinical encounters in William Carlos Williams The Doctor Stories, one must first understand the what and the how of clinical encounters.... [tags: William Carlos Williams]
1973 words (5.6 pages)
- “I was not aware of how much vital energy had gone into this struggle until the struggle was removed” (A Streetcar Named Desire). Williams struggled as a child which helped him began his writing career. William’s grew up during the Great Depression, the many changes of presidents, and a fire that change work policy everywhere in the United States. A Streetcar Named Desire brought him great success. Tennessee Williams struggled with communication as a child. To deal with life Williams started to write; he wrote plays, poems, and books.... [tags: Tennessee Williams Essays]
1835 words (5.2 pages)
- William Carlos Williams was an American poet as well as a skilled physician in the medical field of pediatrics. Williams received his degree from the University Of Pennsylvania Medical School and operated a medical practice for over forty years in his home in Rutherford, where he delivered over two thousand infants. All this while, he kept the second floor of his home as a writing studio where he composed poetry as well as some of his memoirs as a practicing doctor. The Doctor Stories is a compilation some of the great works written by Williams and was compiled by Robert Coles.... [tags: Medicine, Physician, William Carlos Williams]
858 words (2.5 pages)
- Tennessee Williams was a very interesting man whose stories and plays will be carried on forever by the ones who enjoy them. Tennessee Williams plays and stories are all mostly reflections of the way he lived his life and the experiences within his life. He battled through an early childhood that was full of illness and persevered to become one of America 's greatest playwrights. Tennessee Williams’s life started with a struggle and also ended with a struggle. The playwright known as Tennessee Williams was born on March 26, 1911 in Columbus, Mississippi.... [tags: The Glass Menagerie, Tennessee Williams]
1352 words (3.9 pages)
- Down’s Syndrome is named after John Langdon Down, a British doctor who first studied and described the mental disorder. He discovered the disorder in Surrey, England while working at an asylum for children with mental retardation. He called people with this disorder Mongoloids because of the physical similarities of citizens from Mongolia compared to those affected by Down’s Syndrome. Later, the term “Mongoloid” was dropped and named after John Down when Jerome Lejeune, a French geneticist who tested children with these similar physical characteristics of Mongolians, found that 97% of those tested had an extra chromosome-21, with a total of 47 chromosomes.... [tags: Down's Syndrome]
1159 words (3.3 pages)
- Insights into the Musical Potential of Cognitively Impaired People Diagnosed with Williams Syndrome Although William's syndrome people have cognitive impairments, many show signs of having unusual musical abilities. Music therapy is a growing area of therapeutic treatment for these people. 1. seem to show signs of unusual musical abilities 2. cognitive scientists are doing research on WS people and their affinity for music 3. some parents are finding that Williams people can compensate for their deficits through music.... [tags: Papers]
482 words (1.4 pages)