Caroline Richtman's flyer
Angelman Syndrome
What is it?
The Angelman Syndrome is a genetic disorder that causes development disabilities and neurological problems, such as difficulty speaking, balancing and walking, and in some cases seizures. Frequent smiles and outbursts of laughter are common for people with Angelman Syndrome, they also tend to have very happy and excitable personality.
Harry Angelman discovered the syndrome in 1965
What are the symptoms and characteristics of the syndrome?
- Development delays
- Lack of speech
- Not able to balance or walk well without someone or something helping
- Frequent smiling and laughter
- Happy and exciting personality
Is this fatal or life threatening?
This syndrome is fatal, not life threatening.
Do people who have this syndrome experience symptoms early on in life or later on? What age do they show symptoms?
They people who have it tend to get the symptoms when they are about 6 to 12 months, they usually get development delays.
How does a person get this syndrome? Is this a mutation or genetically inherited? What does the Karyotype look like?
They inherit it from their genetics. It is genetically inherited, meaning that the child inherits it somewhere in their parents genes somewhere. Chromosome 15 is often deleted form the maternal chromosome in the Angelman syndrome.
12,000-20,00 are affected a year, it is a rare syndrome.
Interesting information about this syndrome.
- Dopey, in Disney characteristics of not speaking, having a small head, having a happy attitude, and moving like a marionette are common in the Angelman syndrome
- The 15, 15th, fifteenth, and chromosome 15 is affected in the Angelman syndrome
- Fascination with water
- FISH is the genetic test used to determine if an individual has this syndrome
- White is the highest race that gets the Angelman syndrome
Genetic testing, useful or not?
Yes, I think it is useful. But I also think that doctors shoe come up with safer ways. Sticking a needle through the mothers womb and into the baby is very dangerous. Something could go wrong very easily, especially since usually the child or individual is unborn. If they continue to use the testing they should try and come up with a safer way or ways to test it .