Down Syndrome

Paper Summary:

This paper explores the medical condition known as Down Syndrome, describing it as a congenital state characterized by varying degrees of mental retardation and multiple defects, especially in the realms of physical manifestations. The paper discusses Down Syndrome through a case study of nine-year-old Brittany who was born with the most common features and defects associated with the disorder. The paper explains how, as a child afflicted with Down Syndrome, Brittany has learned to cope with her disability and blend in with the rest of her family and with society.

From the Paper:

"A number of abnormal events or mistakes can occur during meiosis that can radically affect the growth and development of the embryo. Some of these mistakes can lead to Down Syndrome which "usually results from what is called non-disjunction or a failure of one pair of chromosomes to separate evenly during meiosis" (Lubec, 1999, 178). In non-disjunction, one daughter cell receives 24 chromosomes and the other cell 22 which cannot survive and cannot be fertilized, due to missing an entire chromosome. When this occurs, the resulting fertilized egg has 47 chromosomes instead of the normal 46. This is often referred to as a trisomy (three chromosomes), and in Down Syndrome, it is the number 21 chromosome that does not separate properly. Most specialists and researchers today refer to this as Trisomy 21, another term for Down Syndrome."

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