Angelman Syndrome Report! Help!!!!?!


Question: im doing a report on angelman syndrome but i cant find what type of genetic disorder it is or how its inheritated. can some one help me please!! i have an "A" in bio and i want to keep it that way some one PLEASE HELP ME!!!!


Answers: im doing a report on angelman syndrome but i cant find what type of genetic disorder it is or how its inheritated. can some one help me please!! i have an "A" in bio and i want to keep it that way some one PLEASE HELP ME!!!!

Angelman syndrome results from absence of a functional copy of the UBE3A gene inherited from the mother.

Table: Genetic Classes of Angelman Syndrome

Large typical deletion 70% Hypopigmentation is common

UBE3A mutation 5-7% Possibility of normal carrier mother

Paternal uniparental disomy 2-3% Inheritance of both 15s from father

Imprinting defect 3-5% Some have IC deletion, some do not

Other chromosome abnormalities 2% Unusual chromosome rearrangements

Unknown 15% All diagnostic tests negative (FISH, methylation, UBE3A mutation analysis


Check this site out to understand the genetic components. It seems to have the most info:

http://www.asclepius.com/angel/asfinfo.h...

(they also link to 4 other excellent sites for additional info)

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Hope this helps you with your research! Congrats on the A in Biology, keep up the good work!!

there are web sites with information here is one
http://www.angelman.org/angel/





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