Klinefelter's syndrome is a condition caused by a chromosome nondisjunction in males; affected individuals have a pair of X sex chromosomes instead of just one. It causes the male to be infertile.
Patau syndrome, also known as Trisomy 13, is a chromosomal aberration, a disease in which a patient has an additional chromosome 13.Patau syndrome is associated with severe mental retardation, small eyes that may exhibit a split in the iris, a cleft lip and/or palate, weak muscle ton, an increased risk of heart defects, skeletal abnormalities, and other medical problems. Affected individuals rarely live past infancy because of the life threatening medical problems associated with this condition. Patau syndrome affects approximately 1 in 10,000 live births. The risk of having a child with Patau syndrome increases as a woman gets older.
Sickle Cell Anemia is an inherited disease in which the red blood cells, normally disc-shaped, become crescent shaped.
As a result, they function abnormally and cause small blood clots. These clots give rise to recurrent painful episodes called "sickle cell pain crises."
Cri du Chat syndrome is a rare genetic disorder due to a missing portion of chromosome 5. Its name, meaning cry of the cat in French, is from the distinctive mewing sound made by infants with the disorder. As babies, patients tend to be squirmy with a mewing cry, ascribed to abnormal laryngeal development. The cry becomes less distinctive with age. Individuals with cri du chat syndrome are often underweight at birth. The disorder is characterized by distinctive facial features, small head size, low birth weight, and weak muscle tone in infancy.
Narcolepsy is a chronic disorder with no known cause. Excessive Daytime Sleepiness is the main characteristic of narcolepsy. You may feel extremely sleepy even after an adequate nights sleep. You may experience...