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Genetic diseases (Klienfelter;s syndrome, Turner's syndrome and Cystic fibrosis)

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Brian Lockyer Grade 12 - Research task 17/02/08 Klinefelter's Syndrome Is it a gene or chromosome mutation? Klinefelter's syndrome is a chromosomal abnormality in which a male has one or more extra X chromosomes in his cells. This results in a chromosome compliment of XXY or in even more rare cases XXXY or XXXXY etc. Sufferers will develop small testes and will experience fertility problems as well as behavioral and physical differences. What are the symptoms? Symptoms vary in severity. The condition often goes unnoticed until puberty, males may develop gnaecomastia and the testes remain small. Affected males usually are infertile due to azoospermia. Sufferers are generally tall and thin and their body type usually resembles the body of a female. Mental retardation is common amongst people with Klienfelter's syndrome. What is the prognosis? Most men with the condition are able to lead normal lives with the exception that they will be sterile and that they will be more susceptible to certain diseases such as arthritis, epilepsy, and osteoparosis. Recent research has revealed that men with Klinefelter's have a slightly shortened life span to men without the syndrome. Have any famous people had the disease? N/A How many people get it (incidence rate)? ...read more.


Have any famous people had the disease? Linda Hunt, most known for her roles in films like The year of living dangerously and Kindergarten cop. She is still the only actress ever to have won an Oscar for playing a character of the opposite sex. How many people get it (incidence rate)? The incidence rate of Turner's syndrome is approximately one in every two thousand five hundred births. The risk factors for the development of Turner's syndrome are still unknown. There is a chance that there is a genetic predisposition that causes the mutations but this theory has been scrutinized by medical professionals. There is no known cause for Turner's syndrome. Does it affect males or females or both? Turner's syndrome affects females. Possible cures? There is no current cure for Turner's syndrome, however; there are treatments that can be beneficial to people who suffer from the condition. Treatments include growth hormone which aims at improving growth and increases adult final height, Estrogen replacement therapy - stimulates development of secondary sex characteristics, cardiac surgery to treat any heart defects as well as newly developed reproductive technologies which assist women in becoming pregnant. Cystic fibrosis Is it a gene or chromosomal mutation? ...read more.


How many people get it (incidence rate)? Cystic fibrosis is listed as a rare disease and it has an incidence rate of about one in every two thousand. There are about three thousand babies born a year with Cystic fibrosis in the United States. Amongst Caucasians, Cystic fibrosis is one of the most lethal genetic diseases and affects about one in every three thousand babies born. The incidence rate is the lowest in Africans and Asians with an incidence rate of one in every seventeen thousand births. There have been estimated to be about twelve million carriers in the US alone. Does it affect males or females or both? The disease can affect both male and females and it occurs evenly between the sexes. Possible cures? There is no cure for Cystic fibrosis but great strides have been made in the field of gene therapy as well as the development of new drugs and antibiotics which have helped reduce lung damage and other problems that are associated with the disease. Current treatments allow medical staff to control the symptoms which include supplementing patients with a special enzyme called pancreatin which helps digest food as well as administering regular doses of antibiotics to reduce the occurrences and severity of chest infections. Daily physiotherapy is also helpful as massaging the chest helps loosen the mucus. In really severe cases the patient may require a heart or lung transplant. ...read more.

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