Angelman Syndrome

Signs/symptoms hand-flapping unsteady body movement a stiff-legged gait diminished or no speech attention deficits hyperactivity feeding and quiescency problems (especially in infancy) delays in locomote development Causes Prader-Willi syndrome and Angelman syndrome be twain rargon chromosome disorders, with very different symptoms, tho caused by the uniform area of DNA. They are important to genic research because they are caused by imprint. Risk factors Angelman syndrome is rare. In about cases, researchers dont know what causes the inherited changes that result in Angelman syndrome. Most mass with Angelman syndrome dont have a family history of the complaint. In a petty(a) percentage of cases, however, Angelman syndrome may be inherited from a parent, so a family history of the disease may increase a babys risk of developing Angelman syndrome. diagnosing The diagnosis of Angelman syndrome rests upon a combination of clinical features and mol ecular contagious interrogation and/or cytogenetic analysis. Consensus clinical symptomatic criteria for AS have been developed. Analysis of parent-specific DNA methylation imprints in the 15q11.

2-q13 chromosome region detects somewhat 78% of individuals with AS, including those with a deletion, uniparental disomy, or an imprinting defect; less than 1% of individuals have a cytogenetically visible(a) 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 seq uence analysis) identifies alterations in ab! out 90% of individuals. The stay 10% of individuals with classic phenotypic features of AS have a presently unidentified genetic mechanism and thus are not amenable to diagnostic testing. A history of slow down motor milestones and then later a delay in general development, especially of speech odd movements including fine tremors, jerky limb...If you want to get a wide essay, order it on our website: BestEssayCheap.com

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