Down Syndrome: A Genetic Disease

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Introduction: Down syndrome is one of the many genetic diseases that can be traced off a gene. I like to expand my knowledge of Down syndrome is mostly because of my involvement with Special Olympics. My sorority, Alpha Sigma Alpha, is national partners with Special Olympics. I have encountered many participants that have Down syndrome. I would like to do more research of the topic, since I am curious of how the disease functions and how it occurs. In addition, I have some friends that have relatives that have Down syndrome. This is what draws my attention to this topic. What is Down syndrome and Disease characteristics: Many people conclude the word disease with Down syndrome as a negative notation. In reality, Down syndrome is considered…show more content…
Both parents can contribute to being a carrier of Down syndrome. Although both parents can contribute to being a carrier, only 1% of cases has a hereditary component. There are even different types of Down syndrome: trisomy 21 (nondisjunction), translocation, and mosaicism. Trisomy 21 or nondisjunction is an error in cell division that results in an embryo instead of two copies, has three copies of chromosome 21. Trisomy 21 accounts for 95 % of Down syndrome cases. Next, mosaicism occurs when there happens to be a mixture of two types of cells that have 46 chromosomes. It sometimes contains 47 chromosomes, which “cells with 47 chromosomes contain an extra chromosome 21” (ndss web). Mosaicism only accounts for only 1% of Down syndrome cases. Finally, translocation makes up 4% of Down syndrome cases. Translocation deals with an extra full or partial copy on the chromosome 21. Listed below are the different cell division in Down syndrome in diagrams: (typical cell division, trisomy 21 (nondisjunction), and mosaicism in order) (nssd…show more content…
Since the disorder is attached on a chromosome, it is hard to try to change the genetic material. Your Child Has a Disability says “approximately 40 percent of Down syndrome children are born with a congenital heart defect” (Batchaw, 1991). This leads to many children having open heart surgery because of the defect. Conversely only 80-90% of infants with cardiac surgery will survive past five years (dsein web). There are the other chances of blocked intestine that occur in 4% of children (Batchaw, 1991). Other diagnosed people will need glass and/or hearing aids. Around 80% of children will experience hearing loss that have Down syndrome (dsein web). If not received proper hearing aids, this will affect their speech and a slower vocabulary. In addition children diagnosed grow better in a family environment than a lifelong care house (go gale web). Without treatment, anyone with Down syndrome ages faster. There are also concerns with having respiratory infections, mostly during the first five years (dsein web). More common is having infections with their skin or bladder. At times by the age of five years, diagnosed Down syndrome have a cumulative risk of 2% chance of having Leukemia (dsein web). A prevalent disorder in many Down syndrome cases are thyroid disorders that has extensive treatment (dsein web). Down syndrome can lead to many other health problems as stated above. Some of the other health problems can be treated

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