FAQ - williams syndrome
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williams syndrome?


Is williams syndrome a chromosomal or a genetic mutation? I know that it is caused by the deletion of a part of chromosome 7 (this results in the loss of 20 or more genes) but im not sure whether this is classified as chromosomal or genetic. I believe that it is genetic.
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Genetic by what I found and am sending to you. Hope this helps you.
Williams syndrome is a rare genetic condition (estimated to occur in 1/7500 births) which causes medical and developmental problems. ...
http://www.williams-syndrome.org/forparents/whatiswilliams.html  (+ info)

What is the average life expectancy of a person with Williams Syndrome?


please give your source
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They should live just as long as everyone else.  (+ info)

what is the name of the protein coded for by gene in williams syndrome?


is there a (protein coded with it or not) if there is tell me.
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There is no protein that codes for it. It is caused by a deletion of over 20 of a persons genes. Specifically genetic material from the region q11.2 of chromosome 7.
Here are some of the deletions and the charatoristics they present:

ELN gene, which codes for the protein elastin, is associated with the connective-tissue abnormalities and cardiovascular disease

LIMK1, GTF2I, GTF2IRD1, and perhaps other genes may help explain the characteristic difficulties with visual–spatial tasks.

CLIP2, may contribute to the unique behavioral characteristics, mental retardation, and other cognitive difficulties.


Hope this helps :-)  (+ info)

Does anyone have or know of any children out there with Williams Syndrome?


I have a child with the syndrome...hes 3. Just wanted to see how many people relate.
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Here's a place you can get some help. There may be a support group in your area. Good luck!

http://www.williams-syndrome.org/  (+ info)

How many people worldwide have Williams syndrome? ?


It seems like this information should be easier to find than it is. Or maybe I'm just stupid. If you find it, could you please give me the website you got it from so I can cite it as a source? Thanks :D
Of course I've googled it. I would look it up on Wikipedia, but I'm not supposed to use it as a source.
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  (+ info)

Average life expectancy of someone with Williams-Syndrome?


And what health issues will they face throughout their life?
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There may be some degree of learning disability and problems with coordination and balance. High energy levels mean children with the syndrome talk excessively, often in an inappropriate, adult manner, and will be overactive, making sleep a real challenge.

Children and adults with Williams syndrome are very sensitive and extremely polite. In particular, children tend not to fear strangers, show a great interest in contact with adults and may have problems forming relationships with their peers.

They have very sensitive hearing, so they may be startled easily by loud noises.

One of the first signs of Williams syndrome is some type of heart or blood vessel problem. Usually, this is because part of the aorta or the pulmonary arteries has narrowed, causing a heart murmur.

Sometimes this narrowing isn't severe and simply needs regular monitoring. At other times, surgery may be necessary. It's important blood pressure is checked regularly because it's more likely to be raised when the blood vessels are narrowed.

Blood calcium levels also need to be monitored as these may become high and lead to problems such as constipation.

How's it diagnosed and treated?
Diagnosing Williams syndrome is confirmed by a blood test, which identifies that part of chromosome 7 is missing.

Most adults and children with Williams syndrome lead full, active and healthy lives, but it's important to be aware of the possible problems that may arise and to address them as soon as possible. For this reason, an expert team is needed that includes doctors and nurses, as well as the skills of occupational speech therapists, physiotherapists and teachers.  (+ info)

Is Williams Syndrome a gene or chromosomal mutation ?


Williams syndrome is a rare condition caused by MISSISNG GENES. Parents may not have any family history of the condition. However, a person with Williams syndrome has a 50% chance of passing the disorder on to each of his or her children. The cause usually occurs randomly.

One of the 25 missing genes is the gene that produces elastin, a protein that allows blood vessels and other tissues in the body to stretch. It is likely that having only one copy of this gene results in the narrowing of blood vessels seen in this condition.

Tests for Williams syndrome:

-Blood pressure check
-Blood test for missing chromosome (FISH test)
-Echocardiography combined with Doppler ultrasound
-Kidney ultrasound -  (+ info)

Does anyone know where I can find a video covering Williams syndrome.?


Either about someone living with it or just a brief overview of it. The video needs to be around 2-3min's and I have looked everywhere. I'm doing a presentation on it and the entire presentation needs to be around 4mins long.

Thanks this would be much appreciated
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http://www.nytimes.com/2007/07/08/magazine/08sociability-t.html?_r=1

http://www.youtube.com/watch?v=7pyNe2TBQi8  (+ info)

I need to know about Williams Syndrome...?


I am working on a project and I need to find information on Williams Syndrome. What kind of government help is there for families and the children that have Williams Syndrome? What is the government's (U.S. or otherwise) official stance on it? What are the regulations or how exactly is someone official diagnosed with Williams Syndrome?
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http://www.williams-syndrome.org/
other information:
http://www.ninds.nih.gov/disorders/williams/williams.htm
Diagnosing:
http://rarediseases.about.com/od/rarediseasesw/a/051205.htm  (+ info)

if a couple have a child what are the chances they could have a child with Williams syndrome?


Williams Syndrome occurs in 1 in 7,500 births. It most commonly arises from a new genetic mutation (a deletion of part of chromosome #7) but can be passed from affected parent to offspring.

If one parent has Williams Syndrome, the child would have a 50% chance of having the condition.  (+ info)

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