How to diagnose Angelman Syndrome

March 21st, 2007
   

??The prognosis of Angelman syndrome may include the duration of Angelman syndrome, chances of complications of Angelman syndrome, probable outcomes, prospects for recovery, recovery period for Angelman syndrome, survival rates, death rates, and other outcome possibilities in the overall prognosis of Angelman syndrome. Naturally, such forecast issues are by their nature unpredictable.??Analysis of parent-specific DNA methylation imprints in the 15q11.2-q13 chromosome region detects approximately 78% of individuals with AS, including those with a deletion, uniparental??disomy, or an imprinting defect; fewer than 1% of individuals have a cytogenetically visible chromosome??rearrangement (i.e., translocation or inversion). UBE3A sequence??analysis detects mutations in an additional ~11% of individuals. Accordingly, molecular??genetic??testing (methylation analysis and UBE3A sequence analysis) identifies alterations in about 90% of individuals. The remaining 10% of individuals with classic phenotypic features of AS have a presently unidentified genetic mechanism and thus are not amenable to diagnostic??testing.


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