Angelman Syndrome

What is Angelman Syndrome?

In my own words: Angelman Syndrome is a deletion of DNA from the 15th chromosome. This deletion occurs on the maternal (mothers) side of the DNA helix, though is 99% of the time no indication of anything wrong with the mother's DNA.

Angelman Syndrome can also manifest as dual imprinting, when two copies of the same chromosome are copied to the same strand of DNA.

There are also angels diagnosed as being clinical angels, meaning there is no apparant fault on the DNA, but they exhibit all the traits and characteristic of an Angelman child.

There are also Angels diagnosed with UBE3A mutaion, UPD (Uni-Parental Disomy) and a few others. More about Angelman Syndrome is being learned by the scientific and medical community as time goes on.

In more technical terms: (Taken from Angels Among Us)

Angelman Syndrome is a neurogenetic disorder first described by English Physician Harry Angelman in 1965. The condition was considered to be extremely rare -- indeed many physicians doubted its existence -- until the 1980s when a deletion on the maternal 15th chromosome was discovered to be the cause of Angelman Syndrome in a majority of cases.

Today, the Angelman Syndrome Foundation is aware of approximately 1,000 cases in the United States, but thousands more are believed to exist throughout the world, as yet undiagnosed.

Classic features of Angelman Syndrome include a stiff jerky gait; severe developmental delay; absent speech; happy demeanor; hypopigmented skin; a protruding tongue; and seizures. Children with Angelman Syndrome are also reported to display a fascination with water and plastic, and many experience sleep disturbances.


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