Causes and Effects of Down Syndrome

Humans are more like X-Men, and their dreams are made possible. Studies have shown that each of our species has more than 200 mutants inside and outside our DNA. A gene mutation is a permanent change in the DNA sequence constituting a gene. These mutations can occur in two different ways; they are obtained during the lifetime or are inherited from biological parents. Some mutations are absolutely harmless; these are mutations that make up the majority of the typical human body.

Down syndrome is an increasingly common disease in the United States. This is an inherited disorder caused by extra chromosome 21. One in 800 births is Down Syndrome (National Down Syndrome Association). Down syndrome is the most common form of identifiable delay (Ludman and Wynbrandt, p. 23) and genetic disease (National Down Syndrome Association). Down syndrome was initially thought to be a disease by John Langdon Down in 1866 and is called "father" of Down syndrome with the same name as Down. The original name of Down's syndrome was "a fool of Mongolia" due to the inclination of the eyes and a flat face (National Down Syndrome Association). He thinks this is a counterattack against Mongolian ancestors, but that word is now considered to be outdated and aggressive. But centuries ago, the characteristics of Down's syndrome were discovered in art, literature and science (National Down Syndrome Association).

Syndrome is an association of multiple medical signs, symptoms, or other characteristics that often occur together. There are only one reason for several syndromes such as Down's syndrome. Others like Parkinson's disease syndrome have many possible causes. For example, acute coronary syndrome is not itself a single disease but is a sign of any of several diseases such as myocardial infarction secondary to coronary artery disease. In other syndromes, the cause is unknown. Even after discovering a potential cause, or even when there are various possible causes, familiar syndrome names are usually still in use. An example of the first type mentioned is that Turner's syndrome and DiGorge Syndrome are still often referred to as "syndrome", but they can be thought of as the substance of disease, not just a set of symptoms and signs.

What is the cause of Down's syndrome? Down syndrome is usually caused by a cell division abnormality called non-segregation. However, two other types of chromosomal aberrations, mosaics and translocations are also associated with Down's syndrome. Regardless of the type of down syndrome in humans, all people with Down's syndrome have chromosome 21 added to all or part of the cells. This additional genetic material alters the developmental process and leads to syndrome-related features.