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Monday, June 26, 2006

Angelman Syndrome

This neurological disorder is caused by a deletion or mutation on the mother's contribution to the 15th chromosome. People with this condition have developmental delays but are generally happy and friendly. They enjoy certain sounds such as flowing water and crackling paper. They have a tendency to make big flapping motions with their hands. They are sensitive to high temperatures. Many of them can learn to perform simple tasks on their own.
Here is an excellent site about Angelman Syndrome.
If the deletion or mutation were on the paternal contribution to the 15th chromosome, Prader-Willi syndrome would result. People with this condition tend to be small in stature and suffer from polyphagia. They also suffer from developmental disabilities.

Fitting In Your Genes

In my A&P class, we are currently studying genetics. I'm fascinated by anything to do with genetics although the intricacies of DNA are a bit overwhelming. I enjoy seeing if I can tell what a person's ancestry is by looking at them and may delve into this a bit. I'm also interested in genetic abnormalities. I know that I have a couple. Bipolar disorder is caused by a mutation, I believe on the 15th chromosome. I also have a mild nonspecific neurological disorder that may or may not be related and when I'm very tired will lead to facial tics and muscle jerking. I have a blog all about abnormal psych issues and will tend to stick to physical issues here, and sometimes the two will overlap. I'm hoping that this will be a fun and interesting if somewhat sporadic project!