Angelman Syndrome

Signs/symptoms hand-flapping choppy body movement a stiff-legged gait flyspeck or no speech attention deficits hyperactivity feeding and quiescence problems (especially in infancy) delays in locomote development Causes Prader-Willi syndrome and Angelman syndrome atomic number 18 two rare chromosome disorders, with very different symptoms, tho caused by the identical 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 genic changes that result in Angelman syndrome. Most mass with Angelman syndrome dont have a family history of the malady. 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. diagnosis The diagnosis of Angelman syndrome rests upon a combination of clinical features and molecular inherited test and/or cytogenetic compend. Consensus clinical symptomatic criteria for AS have been developed. Analysis of parent-specific DNA methylation imprints in the 15q11.

2-q13 chromosome region detects or so 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(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 sequence analy sis) identifies alterations in about 90% of ! individuals. The remain 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 retard 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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