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I need some assistance with these assignment. education of angelman syndrome Thank you in advance for the help!
I need some assistance with these assignment. education of angelman syndrome Thank you in advance for the help! The most eminent AS characteristics include,
Speech impairment, which ranges from little to no words at advanced stages. Consequently, this forces some victims to end up using gestures or picture communication systems while conversing with other people (Clayton-Smith, 2010).
Studies so far contacted cite AS is among the rarest diseases not only in the US but also globally. Its prevalence is about one person in every population ranging from 12,000 to 20,000 people (Panayiotopoulos, 2010). However, this prevalence only represents estimates because the disorder’s exact data up to date is still unknown. This prompts numerous scholarly works that rely on data from medical clinics due to the disease’s rarity (Van Buggenhout & Fryns, 2009).
The Fluorescence in Situ Hybridization (FISH) test is the most commonly used test for AS diagnosis (Cassidy & Allanson, 2011). This test involves taking one’s blood sample for genetic checking with the intention of identifying any deletion on chromosome 15q11.2–13 (Cassidy & Allanson, 2011).
Angelman Syndrome (AS) is a disorder normally caused by the anomalous functioning of the UBE3A gene, located on chromosome number 15. A child inherits a copy of the gene from each parent. The two copies are active in nearly all the body tissues but only the gene replica attained from the mother is active in the brain.
The disorder occurs due to four major genetic mechanisms, which include chromosome 15q11 –q13 deletion. It involves the deletion of a very small piece of DNA missing from the chromosome. The number of Angelman Disorder due to deletion range from 65% to 75% and the risk of recurrence rate being 1 %(Cassidy & Allanson, 2011).
The second mechanism is the paternal uniparental disomy (UPD) whereby the patient posses two copies of the chromosome 15 and no copy of the same chromosome from the mother. .
