The Genetic Disorders Pages!
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Cystic Fibrosis
Cystic fibrosis (CF), also called mucoviscidosis, is an auto-somal hereditary disease that affects the lungs, sweat glands and the digestive system. At the genetic level, cystic fibrosis is the result of an in-frame deletion of three base pairs in the DNA. Cystic fibrosis results from the production of an abnormal form of a protein called cystic fibrosis trans-membrane conductance regulator (CFTR). CFTR functions in transporting chloride ions across epithelial cells found in the lung and intestinal tract. In cystic fibrosis patients, CFTR does not function properly, causing accumulation of ions inside epithelial cells. Since water follows ions by osmosis, this results in water depletion and viscous mucus on the surface of alveolus.
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XYY syndrome
XYY syndrome, or jacob's syndrome, is a trisomy of the sex chromosomes in which a human male receives an extra Y chromosome in each cell, hence having a karyotype of 47,XYY.
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Trisomy 18
Trisomy 18 or Edward's Syndrome, is the second most common trisomy after Down's Syndrome. Edward's Syndrome occurs when three sets (trisomy) of chromosome 18 occur.
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Trisomy 13
Trisomy 13, also known as Patau syndrome, is a chromosomal aberration, a disease in which a patient has an additional chromosome 13.
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Klinefelter's syndrome
Klinefelter's syndrome is a condition caused by a chromosome abnormality in males (specifically, a nondisjunction); sufferers have a pair of X sex chromosomes instead of just one. It is named after Dr. Harry Klinefelter, the medical researcher who first described this syndrome in 1942.
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Down's Syndrome
Down syndrome (also called Down's syndrome) encompasses a number of genetic disorders, of which trisomy 21 (a nondisjunction) is the most representative, causing highly variable degrees of learning difficulties and physical disabilities. It is named for John Langdon-Down, the British doctor who first described it.
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Huntington's Disease
Huntington's disease or Huntington's chorea is an inherited disorder characterized by abnormal body movements called chorea, and loss of memory. We also have evidence that doctors as far back as the Middle Ages knew of this devastating disease. The incidence is 5 to 8 per 100,000. It takes its name from the New York physician George Huntington who first described it precisely in 1872.
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