An Analysis of the Statistics of Down's Syndrome, a Genetic Disorder Resulting in Mental Retardation

In one in every one thousand births, an extra chromosome results in the birth of a baby with Down’s Syndrome; a genetic disorder resulting in mental retardation.

In 1866, physician John Langdon Down, in Surrey England, identified a set of chien with common features of mental retardation. Down was the first to identify a similar link of symptoms in many patients. Thus, the new disorder was named “Down’s Syndrome”. Though it wasn’t until 1959, that Jerome Lejeune and Patricia Jacobs, speculated that Down’s syndrome was caused by chromosomal abnormalities.

They traced the disorder to the exactly affected chromosome. Lejeune and Jacobs constructed phenotype and genotype maps of afflicted patients by combining fluorescence hybridization, and Southern blot dosage analysis, therefore mapping out the chromosomal makeup of Down’s patients. Their research revealed abnormalities in the twenty-first pair of chromosomes. With the new research findings, Down’s syndrome was traced to its source, an error in cell development and the mutation of autosomal cells which results in three major types of Down’s syndrome.

Trisomy 21, involves the presence of extra genetic material on the twenty-first pair resulting from an anomaly in cell division during the development of egg or sperm during fertilization, About 95% of Down’s syndrome births are Type Trisomy 22.

Roughly 49% are caused by Translocation, “where the extra chromosome twenty ane is broken off and becomes attached to another chromosome pair.

The last 19% have Mosaicism, where only some cells of the chromosome have extra genetic material.

With the different types of Down’s the degree of retardation ranges from mild to severe.

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Alleles dontffect every patient in the same way, and therefore different effects of the disease are presented in each case.

Patients with Down’s Syndrome can lead almost normal lives and be just as healthy as other children but Down’s has no cure, and therefore symptoms remain through the entire course of a patient’s leg. Even with low to moderate levels of retardation rarely do patients live past 40. Many are very healthy, but often Down’s is accompanied by other medical problems. Patients are at an increased risk of other potential problems, including congenital heart defects, increases suseptabity to infection, respiratory problems, gastrointestinal disorders, and childhood leukemia. The main cause of increased susceptibility is the retarded growth and development. At birth, when a baby is diagnosed by the identification of the Down’s phenotype. A doctor by observation of a newborn’s symptoms such
as a”loppy” feeling, due to a lack of normal muscle tissue (hypotonia), head and face abnormalities: a flattened skull, small almond-shaped eyes, and a small mouth with protruding tongue, broad hands with unusual palm creases; these symptoms allow physicians to identity Down’s syndrome. Most are identified at birth as being affected with Down’s, but on some occasions, the diagnosis can be missed due to a lessened severity of symptoms, and therefore Down’s is not identified until later signs of developmental retardation are detected, In & nurturing environment Down’s patients can lead healthy, productive, happy lives.

Thus, the symptoms of Down’s Syndrome at various levels mean individual patients need specialized treatment tailored fit to their needs so then they can reach their maximum potential.

In recent years society’s become more astute about Down’s syndrome. Public education and work programs give patients the chance to interact with others in their community as well as heighten society’s awareness of the disease. Down’s research was done with the Human Genome Database, which hopes to map out all 46 chromosomes, further research will be able to prevent some cases, detect mutations and correct the mistake in the uterus. Procedures such as these are still years away, but today’s research gives hope for future generations.

Therefore, personally | strongly fee! towards both the support of Down’s research as well as the treatment and education of current Down’s patients and family members.

Patients with Down’s are productive members of society and deserve to be treated as such. Special programs to assist them are in need and should be instituted in as many public facilities as possible.

Dove’s Syndrome, is a constant challenge to all those personally afflicted and the family and friends of patients. With further research Down’s can be prevented or corrected, for now, an extra effort should be made to establish programs that can allow Down’s syndrome patients to reach their full potential.

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An Analysis of the Statistics of Down's Syndrome, a Genetic Disorder Resulting in Mental Retardation. (2022, Jun 11). Retrieved from

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