Down syndrome is a set of intellectual and physical symptoms which is the result of having an extra copy of chromosome 21. As a rule, a fertilized egg has 23 pairs of chromosomes, however people who are diagnosed with a down syndrome contains an additional copy of chromosome 21 (also referred to as trisomy 21 since there are 3 replicates of this particular chromosome rather than 2), which alters the body and mental growth and advancement (Selikowitz, 1997).
The additional genetic material present in individuals with down syndromes is the main cause of breaks in the way that individual progresses or matures, and this usually results to the individual being mentally retarded. The likelihood of a newborn child being diagnosed with Down syndrome is 1 in every 800 babies born. People who are afflicted with Down syndrome are at increased danger of having heart failings, digestive difficulties, leukemia, and hearing problems (Selikowitz, 1997).
There are some facts which suggests that people afflicted with Down syndrome is at high risk of being afflicted with Alzheimer’s disease (a degenerative disease of the brain which sets off slow loss of memory, as well as capacity to perform normally). Usually, individuals afflicted with Alzheimer’s disease are elderly people; however those who have Down syndrome could start showing signs of being afflicted with Alzheimer’s disease for as young as 30 years old (Selikowitz, 1997). The signs of Down syndrome depend from one individual to another.
There are those kids or individuals afflicted with Down syndrome who requires a great deal of medical attention. However, there are also those individuals who live rather healthy and independent lives (Selikowitz, 1997). No one could really tell why Down syndrome occurs and there is no way on which to avoid the chromosomal error that triggers it. However scientists state that pregnant women (aged 35) are more liable to produce a child which is afflicted with the Down syndrome (the likelihood being 1 in 400). Pregnant women at the old age of 42 are likely to produce a child with Down syndrome (1 in 60 chances) (Selikowitz, 1997).
Most conditions of Down syndrome are not hereditary rather it takes place as accidental occurrences in the course of the development of reproductive cells. An error in cell division would produce an unusual number of chromosomes in that the egg or the sperm cell is likely to have an extra copy of chromosome 21. Mosaic Down syndrome is also not hereditary in that it takes place in a chanced error at the time of the cell distribution at the early stage of fetal formation which results into an abnormal 2 copy of the chromosome 21, and other cells having 3 instead of 2 copies of chromosome 21 (also referred to as trisomy 21).
Translocation Down syndrome on the other hand could be hereditary in that an unaffected individual could be a carrier of a reorganization of genetic materials of chromosome 21 with other chromosomes (this particular rearrangement is referred to as a balanced translocation since there is no spare material from chromosome 21). Most individuals who are afflicted with this do not show any sign of having a Down syndrome, yet it increases the likelihood of them having a child afflicted with the said condition.
The most common physical symptoms of Down syndrome are flat face and upward slant of the eye, abnormally small shaped ears, and deep crease on the center of the palm, white blemish on the eye’s iris, tiny hands and feet (Selikowitz, 1997). Individuals afflicted with Down syndrome could take advantage of different kinds of therapies (speech therapy, occupational therapy and the like) as well as exercises to better their motor capabilities. They could also be put into schools where they could be given extra attention and education.
In fact there are many individuals who are afflicted with it who could cope well into normal classes at their schools (Marshall, 2005). There was a point in time when children afflicted with Down syndrome died in their childhood years, most of which became ill with infection while some died because of heart failures. Nowadays, people who are diagnosed with Down syndrome could live long enough to reach adulthood not to mention that some of their healthy predicaments could be treated.
For example, medicines could help infections and surgeries could correct heart problems (Marshall, 2005). In spite of this, there is no way Down syndrome could be cured. It is something an individual have the day he was born and he has no choice but to carry it until the day he dies. However, scientists are currently looking at ways on which to avoid the occurrence of Down syndrome as well as to better the lives of those who are afflicted with it (Marshall, 2005).
Down syndrome is one of the most famous genetic disorders and it is basically this is the main reason why the Human Genome Project is working hard on it. The primary objective of the Human Genome Project is to classify every gene in the human genome, reveal their configuration and task and find out their parts in human diseases. The findings the Human Genome Project had presented the doctors with enhanced genetic diagnostics as well as prognostic examinations. The accessibility of vast genetic maps has amplified the speed by which various disorders in genes are confined in the human genome.
The findings also made it possible for the doctors to spot out vulnerable regions of the genome that may be accountable for certain disorders. If the Human Genome Project continues it may be able to know the reason why Down syndrome occurs and thus it may also be able to come up with ways on which to avoid it.
Works Cited Marshall F. Coping with Down’s Syndrome. Sheldon Press 2005. Selikowitz M. Down Syndrome: the Facts Oxford University Press; 2 edition 1997.