Unveiling Jacobs Syndrome: Understanding Down’s Syndrome at the Chromosomal Level

In 1866, physician John Langdon Down, in Surrey England, identified a set of children with common features of mental retardation. Down was 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 exact effected 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 on the twenty first pair of chromosomes. With the new research findings, Down's syndrome was traced to it's 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 21. Roughly 4% are caused by Translocation, "where the extra chromosome twenty one is broken off and becomes attached to another chromosome pair. The last 1% 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 sever. Alleles don't effect 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 life. 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 to other potential problem, including congenital heart defects, increases suseptablity to infection, respiratory problems, gastrointestinal disorders and childhood leukemia. The main cause of increased susceptibility is due to the retarded growth and development. At birth, when a baby is diagnosed by the identification of the Down's phenotype.

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A doctor by observation of a newborn's symptoms such as, a "floppy" feel, 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 identify Down's syndrome. Most are identified at birth as being afflicted with Down's, but on some occasions the diagnosis can me missed due to a lessened severity of symptoms and therefore Down's is not identified until later signs of developmental retardation are detected. In a nurturing environment Down's patients can lead healthy, productive, happy lives.

Thus, the symptoms of Down's Syndrome at various levels means individual patients need specialized treatment tailor fit to their needs and then they can reach their maximum potential.

In recent years society's become more astute of 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 done with the Human Genome Database, which hopes to map out all 46 chromosome, with 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 I strongly feel towards both the support of Down's research as well and 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 program to assist them are in need and should be instituted in as many public facilities as possible. Down's Syndrome, is a constant challenge to all those personally afflicted and the family and friends of patients. With further research Down's can possibly be prevent or corrected by for now, an extra effort should be made to establish programs which can allow Down's syndrome patients to reach their full potential.

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