Down Syndrome Research Paper

Down Syndrome

The life of a child with Down syndrome is different from the life of a child without Down syndrome. Down syndrome is “a genetic chromosome 21 disorder causing developmental and intellectual delays”. (4) If you think about it, there are many people that have Down syndrome. The complications of living with Down syndrome can range in severity to mild to extreme and may include thyroid disease which is any dysfunction of the butterfly-shaped gland at the base of the neck. Heart defects which is an abnormality in the heart that develops before birth, obesity, seizures and many more.(3) There are two types of symptoms, behavioral and physical. Some behavioral symptoms are poor judgment, impulsiveness, delayed speech and language development.

Some physical symptoms are short necks, upward slanted eyes, extreme flexibility, and microcephaly which is having a small head. (5)
There are a few different types of Down syndrome.

The most common type of Down syndrome is Trisomy 21. “Trisomy 21 is an extra chromosome 21 originates in the development of either the sperm or egg.” (4) More than 90 percent of all cases of Down syndrome are Trisomy 21. Another type of Down syndrome is Mosaic Trisomy 21, which is a rare form of Down syndrome and occurs in less than 2 percent of cases. While similar to simple trisomy 21, the difference is that the extra chromosome 21 is present in some, but not all cells, of the individual. “This type of Down syndrome is caused by abnormal cell division after fertilization. The name comes from a random order of normal and abnormal cells (a mosaic). In cellular mosaicism, the mixture can be seen in different cells of the same type; while with tissue mosaicism, one set of cells may have normal chromosomes and another type may have trisomy 21.” (7) Another type is Translocation Trisomy 21. This type happens in 3 to 4 percent of all cases, and is when chromosome 21 becomes attached to another chromosome. “The carrier, the one having the translocated chromosome, will have 45 chromosomes instead of 46 but they will have all the genetic material of a person with 46 chromosomes. This is because the extra chromosome 21 material is located on a different chromosome (the translocated one). A carrier will have the extra material but will have only one chromosome 21. The carrier will not exhibit any of the symptoms of Down syndrome

because they have the correct amount of genetic material. (7)
There are many things about Down syndrome that doctors know are factual. But, there are also some things doctors might not know for sure. Some facts about Down syndrome are that it is found before or just after a child is born. There are some other common sense type of facts in Down syndrome, for example Down syndrome occurs in all races and genders. (3) Also Down syndrome is the third most common genetic order following behind Cystic Fibrosis and Huntington's disease. The life expectancy of a child getting Down syndrome depends on the mother's age. If the mother is older than have an increased chance of having a child with Down syndrome. A 35 year old woman has about a one in 350 chance of conceiving a child with Down syndrome. Chances increase gradually to one in 100 by the age of 40 years old, and at age 45 the incidence becomes approximately one in 30.