Williams Syndrome

A detailed Summary of Williams Syndrome

Chromosomal Deficiencies - Williams Syndrome Pg 1

Williams Syndrome is a genetic disorder that was first discovered in 1961. It effects males and females equally. It can occur to all ethnicity and is present at birth. It occurs in about 1/20000 person and it causes both physical and developmental problems. This disorder has a personal touch to me, because my sister suffers from it. I hope to be able to shine some light on how it effects a family, and how it effects an individual on a more personal level.

Williams Syndrome is caused by missing genetic material on chromosome #seven including the gene that makes the protein elastin ( a protein that provides strength and elasticity to vessel walls). It is likely that the elastin gene deletion accounts for the physical features of Williams syndrome. Some medical and developmental conditions are caused by deletions of materials near the gene elastin, and can very among individuals. In most families a child with Williams syndrome would be the only one in the entire extended family, but has a 50% chance of passing it onto their children.

Many people with Williams syndrome go undiagnosed until a late age. This can be serious as people with Williams syndrome can have serious an

Williams Syndrome can effect many different organisms in the body. But it is important to remember that no two people with the disorder suffer from the exact same things. And since some of the problems can develop over time, regular medical check ups are recommended. Despite the possibility of medical problems, most people with Williams syndrome live long, full and healthy lives.

Williams syndrome is by no means completely de-habilitating. The majority of sufferers master self help techniques, or use pharmaceutical drugs such as Ritlin and Dexedrine. Most people complete academic or vocational school and some move on to post secondary education. Because this disease ranges in severity, some people can achieve more then others. People with Williams syndrome are employed in a variety of settings from supervised to independent jobs. Many adults live at home, in group houses or on there own.

She went to school with the other children. She was active in sports, and other extracurricular activities. We also found it important for her to interact with her peers who also had disabilities. The Special Olympics were a large part of her life, it brought balance, responsibility, and dedication into her life, and also to see people who were disabled, some more severely and some less then herself. These disabilities can be hard on both the sufferer and their family, but with a little hard work from both sides, a good life can be led.

Depending on the severity of the Disability, this disease effects families differently. In my family, the severity of my sisters was mild, but still, it caused some different attention and actions. Bec

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Category: Science