Down Syndrome

Topics: Down syndrome, Chromosome, Chromosomal translocation Pages: 3 (870 words) Published: December 5, 2011
Guy-Marcel Lilavois Jr
Professor Hendricks
ENC 1101, Composition 1
14 November 2011


Thesis Statement: Although Down syndrome is used as a general term, several forms of this syndrome exist.

I. Diagnosis
A. Discovery
B. Cause
II. Types
A. Trisomy 21
B. Translocation
C. Mosaicism
III. Expectations From Therapy


Down syndrome
Lot’s of people fail to realize that several forms of Down syndrome exist. “Down syndrome is a set of mental and physical symptoms that result from having an extra copy of Chromosome” (NICHD). According to Merriam-Webster’s Dictionary, “a congenital condition characterized by moderate to severe mental retardation, slanting eyes, a broad short skull; broad hands with short fingers, and trisomy of the human chromosome numbered 21 —called also Down's syndrome”. A piece of art, in Aachen, Germany around 1505, seems to portray a person with Down syndrome characteristics. However, it wasn’t until 1866 when “Dr. John Langdon Down, an English doctor working in Surrey, first described the characteristic features of the syndrome” (Selikowitz 26) hence the name Down syndrome. In 1959, Dr. Jerome Lejeune and some colleagues of his showed that “Down syndrome was associated with an extra chromosome” (Selikowitz 26). When a baby is diagnosed with Down syndrome it means that the “baby has a genetic condition resulting from the presence of one extra chromosome in some or all of his or her millions of cells” (Skallerup 2). “This additional chromosome, because of the genes it contains, causes an excessive amount of certain proteins to be formed in the cell” (Selikowitz 33). So, a person without Down syndrome is born with 2 sets of the 21st chromosomes while one born with Down syndrome has 3 sets of the 21st causing him or her to have 47 chromosomes instead of the normal 46. Three different types of Down syndrome exist: Trisomy 21 found in 95% of cases, Translocation found in 4% of...

Cited: Chapman, R., S.E. Schwartz, and E. Kay-Raining Bird. Language Skills of Children and Adolescents with Down Syndrome. I. Comprehension. Journal of Speech and Hearing Research, 34, (1991): 1106-1120. Web. 12 Nov. 2011.s
“Down syndrome.” Merrian-Webster Dictionary App ed. 2011. I-Touch.
"Down Syndrome." NICHD - The Eunice Kennedy Shriver National Institute of Child Health and Human Development Official Home Page, n.d. Web. 12 Nov. 2011.
Mosse, Emma K., Christopher Jarrold, and Karla McGregor. "Evidence For Preserved Novel Word Learning In Down Syndrome Suggests Multiple Routes To Vocabulary Acquisition." Journal of Speech, Language & Hearing Research 54.4 (2011): 1137-1152. Academic Search Premier. Web. 12 Nov. 2011.
Selikowitz, Mark. Down Syndrome. New York: Oxford University Press Inc., 2008. Print
Skallerup, Susan J. Babies with Down Syndrome-A New Parent’s Guide. Maryland: Woodbine House, Inc., 2008. Print
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