Essay on Symptoms And Treatment Of Mosaicism Down Syndrome

Essay on Symptoms And Treatment Of Mosaicism Down Syndrome

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The sign and symptoms vary from mild to severe according to types of Down syndrome. For example; mosaicism Down syndrome will have less sign and symptoms because only few cells have extra copies of chromosome 21 and other cells are normal. The most common physical features include flattened face, a short neck, small ears, small hands, and feet, short in height (Centers for Disease Control and Prevention, 2014). Moreover, all children with this birth defect are affected with mental retardation. Wiseman, Alford, Tybulewicz, and Fisher (2009) stated chromosome 21 is responsible for mental retardation and health problems in Down syndrome because Trisomy of 21 has a significant impact on the development of numerous tissues of the body, most importantly the heart and the brain. Trisomy 21 causes decrease of brain volume most specifically hippocampus and cerebellum (p.3). The hippocampus is associated with memory and the cerebellum is responsible for motor control and other cognitive function such as language and attention. The most has an intelligence quotient (IQ) in the mild (50–70) to moderate range (35–50) (Gupta & Kabra, 2014, p. 562).
Chromosome 21 has 200 to 250 genes approximately. According to the number of genes involved, chromosome 21 is the smallest chromosome. Researchers believe that even the smallest change in this gene can affect an individual and gives the syndrome of Down syndrome. Some of the genes involved in Down syndrome are; superoxide dismutase, COL6A1, ETS2, CAF1A, cyctathione beta synthase, DYRK, CRYA1, GART, IFNAR, APP, GLUR5, S100B, TAM, and PFKL. The overexpression of these genes may result in Down syndrome (Leshin, 2003). For example: the gene called DYRK1A is responsible for brain growth. The insufficienc...


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...hat is 46 instead of 47. This article will help me to write my last body paragraph because this article contains information regarding a method that can prevent Down syndrome. This method hasn’t been approved yet; scientists believe that it may help cure Down syndrome.
Individuals with Down syndrome have 47 chromosomes instead. Down syndrome is the most common chromosomal abnormality and majority of individuals with Down syndrome is caused by trisomy 21. Many genes in chromosome 21 including DYRK, COL6A1 are responsible for syndromes in Down syndrome. A study has shown that as maternal age increases the chances of child with Down syndrome increases. Individuals with Down syndrome are affected with intellectual disability and many chronic health issues but early interventions programs such as genetic counseling have helped them live a productive and healthy lifestyle

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