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Genetic disorders - Research Paper Example

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Down Syndrome Introduction The presence of an extra chromosome is prevalent in plant but rare in animals. Diploid human cells contain 46 chromosomes, 44 autosomes and two sex chromosomes namely XX in females and XY in males. At mitotic metaphase, each of the chromosomes can be recognized by its size, shape and banding pattern…
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Genetic disorders
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Download file to see previous pages The symptom was first described by British physician, Langdon Down (Web. Down Syndrome, n.d.). Symptoms People with Down Syndrome are typically short in stature, short neck, loose-jointed, particularly in ankles, they have broad skulls, wide nostrils, large tongues with a distinctive furrowing and stubby hands with a crease on the palm, curved "pinky" fingers, upward slanting eyes, shape of the ears are small, facial expressions are flat, weak muscles are responsible for the poor heart (responsible for congenital heart imperfections) and other organ development, white spots on iris. Such individuals display impaired mental abilities and require special training and care (Web. Down Syndrome, n.d.). Age of onset Down Syndrome is a birth defect which is influenced by the age of the mother. As the age of the mother progresses chances of birth defects augments. For instance, if the age of mother is 25 then chances of giving birth to the child with Down Syndrome is 1 in 1,250 where as if the age of mother is 45 years, the chances of baby with Down Syndrome becomes 1 in 30 (Web. Down Syndrome, n.d.). Prevalence of Down Syndrome Down Syndrome is one of the most prevalent chromosomal condition. In 2004-2006, the national prevalence of the disease was 15 per 10,000 births (Web. National Center on Birth Defects and Developmental Disabilities, n.d.). Current Knowledge Trisomy 21 is a result of chromosome non-disjunction in one of the meiotic cell divisions. The non-disjunction event can occur in either parent, but more likely to occur in females. Congenital birth defects are difficult to treat still, with the prevalence of disease condition research studies are going on to formulate a definite cure for the disease condition. Prevalence of the Condition- Statistics reveal that there is 71 percent increase in the cases of Down Syndrome, in the year 1989-90, the number of cases reported were1,075; while in 2007-8 the number of cases increased to 1,843. One of the chief reasons is that women are more career oriented and delay is observed in starting family which is displayed through the comparative analysis, which display that women of 40 years has 16 percent more chances of having a baby with Down syndrome as compared to the women of the age group 25 years (Web. Down's Syndrome cases soar as women delay starting a family, 2009). However, lazy eyes could be rectified with the help of surgery. Considering the prevalence of Down Syndrome, numerous research projects are being carried out by Down Syndrome Research and Treatment Foundation (DSRTF), encompassing- Balancing Excitation and Inhibition- the project deals with the exploration of neural circuits that are responsible for the memory and learning of the individual, using excitatory and inhibitory inputs. The study is carried out using numerous subtypes of GABA-A receptors. Roche, an international pharmaceutical company in September 2011, initiated Phase-I clinical trials for a drug employed to assess the protection and permissibility of the particle intended to deal with the behavioral and cognitive discrepancies related to Down Syndrome (Web. Active Research Projects, n.d). Restoring Neuronal Pathways- Down syndrome cases display stunted growth, however, certain cerebellar neurons are targeted to regulate the development of cerebellum to its normal state which directly influences the brain activity. The compound SAG is used ...Download file to see next pagesRead More
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