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  • Essay / Translate dosage compensation into Down syndrome - 798

    Down syndrome is common in the United States. According to Gould and Dyer (2011), Down syndrome is an example of trisomy because three chromosomes are present compared to two at position 21. This means that people with Down syndrome have a total of 47 chromosomes instead of the original 46. The body is marked by the effects of Down syndrome. The effects of Down syndrome can lead to defects in physical and mental development. Initially, Down syndrome was also called monogolism, but it is now more commonly referred to as Down syndrome. The risk of giving birth to a child with Down syndrome increases with the age of the mother. A 30-year-old woman has a risk of approximately 1 in 1,000 of having a child with Down syndrome, a 35-year-old woman has a 1 in 500 risk, and at age 40, a risk in 100 (Gould & Dyer, 2011). It is unclear whether this is due to oocyte damage resulting from degenerative factors related to aging or from environmental substances. In some cases this must also have been due to paternal origin. This disorder can be detected by a positive triple screening test on maternal blood followed by amniocentesis (Gould & Dyer, 2011). According to Gould and Dyer (2011), the characteristics of people with Down syndrome are generally a small head with a flat facial profile. , the eyes are slanted and the irises contain Brushfield spots, the mouth tends to be open, a large tongue and a very arched palate. The person may also have a single small palmar crease, hypotonic muscles, loose joints, cervical abnormalities, short stature, delayed developmental milestones, delayed or incomplete sexual development and children are at risk of having other problems such as visual problems, hearing problems, digestive tract obstructions, celiac disease...... middle of paper ...... is over, then the nurse is the one who follows up with the patient for any concerns or questions they may have. Inactivation of chromosome 21 allows older women to have children without the risk of having a child with Down syndrome. The inactivation of chromosome 21 is a major event for nurses because it possibly helps increase the lifespan of children and allows people to have children regardless of their age. Works Cited Gould, BE & Dyer, RM (2011). Pathophysiology for the Health Professions (4th ed.). (pp. 150-154). St. Louis: Saunders.Jiang, J., Jing, Y., Cost, G., Chiang, J., Kolpa, H., Cotton, A., Carone, D., Carone, B., Shivak, D. , Guschin, D., Pearl, J., Rebar, E., Byron, M., Gregory, P., Brown, C., Urnov, F., Hall, L., & Lawrence, J. (2013). Translate dosage compensation into Down syndrome. Nature, 500, 296-300. doi: 10.1038/nature12394