Translating Dosage Compensation to Trisomy 21

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Down syndrome is common within the United States. According to Gould and Dyer (2011), Down syndrome is an example of trisomy due to there are three chromosomes that are present versus two in the 21 position. Meaning, people with Down syndrome have a total of 47 chromosomes instead of the original 46. The body is marked by the effects of Trisomy 21. The effects of Trisomy 21 can lead to defects of physical and mental development. Down syndrome was at first also called monogolism, but now it is more commonly known as Down syndrome. The risk of giving birth to a child with Down syndrome increases with maternal age. A woman at age 30 has a risk of approximately 1 in 1000 in bearing a child who has Down syndrome, a woman at age 35 has a risk of 1 in 500, and at age 40 there is a risk of 1 in 100 (Gould & Dyer, 2011). It is unknown if this is due to the cause by the damage of the oocytes resulting of degenerative factors with aging or environmental substances. Some cases it was to be due to paternal origin also. This disorder can be detected by a positive triple screen test on maternal blood followed by an amniocentesis (Gould &Dyer, 2011).
According to Gould and Dyer (2011), characteristics in people with Down syndrome are typically a small head with a flat facial profile, eyes are slanted and the irises contain a Brushfield spots, mouth tends to hand open, large tongue, and high-arched palate. The person can also have small and a single palmar crease, hypotonic muscles, joints are loose, cervical abnormalities, short stature, delay in developmental stages, sexual development is delayed or incomplete, and children are at risk for other problems such as visual issues, hearing problems, obstructions in the digestive tract, celiac diseas...

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... is done, then the nurse is the one to follow up with the patient for any concerns or questions that they may have. Silencing of the chromosome 21 allows older women to have children without the possible risk of having a child with Down syndrome. The silencing of chromosome 21 is a major event for nurses, due to it helps possibly increase the lifespan of child and allows people to have children no matter what age they are.

Works Cited

Gould, B.E. & Dyer, R.M. (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). Translating Dosage Compensation to Trisomy 21. Nature, 500, 296-300. doi: 10.1038/nature12394

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