angelman syndrome

[albatross521]

Once came across this phrase, jotted it down.

Any1 knows the meaning?

[Big Al1st]

Angelman Syndrome (AS) is neurological disorder in which severe learning difficulties are associated with a characteristic facial appearance and behaviour. Dr. Harry Angelman, a paediatrician working in Warrington, Cheshire, first reported three children with this condition in 1965 and it was initially presumed to be rare. In 1987, it was first noted that around half of the children with AS have a small piece of chromosome 15 missing (chromosome 15 deletion). Since this time the condition has been reported more frequently and the incidence is now thought to be 1 in 25,000 children.

http://people.zeelandnet.nl/fhof/angelman/asi. htm

[albatross521]

thx Big Al1st 4 your info.

[Peter Pedant]

about the only other thing I can add is that exactly the same chromosome location also is the cause of Prader Labhard - W syndrome.

and it turns out that if the chromosome you get from the the mother is deleted, then you get one syndrome and if it is DNA from the father, that is deleted then it is Angelman,

the expression of DNA depending on whether it comes from the mother or the father is called genomic imprinting

[albatross521]

thx for more info, Peter Pendant