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Trisomy 21. Down syndrome (also known by the karyotype 47,XX,+21 for females and 47,XY,+21 for males) [98] is mostly caused by a failure of the 21st chromosome to separate during egg or sperm development, known as nondisjunction. [91] As a result, a sperm or egg cell is produced with an extra copy of chromosome 21; this cell thus has 24 ...
Specialty. Medical genetics. Monosomy 9p (also known as Alfi's Syndrome or simply 9P-) is a rare chromosomal disorder in which some DNA is missing or has been deleted on the short arm region, "p", of one copy of chromosome 9 (9p22.2-p23). [1][2] This deletion either happens de novo or as a result of a parent having the chromosome abnormality. [3]
Williams syndrome (WS), also Williams–Beuren syndrome (WBS), is a genetic disorder that affects many parts of the body. [2] Facial features frequently include a broad forehead, underdeveloped chin, short nose, and full cheeks. [2] Mild to moderate intellectual disability is observed in people with WS, with particular challenges with visual ...
A guide to Down syndrome including symptoms and diagnosis of this genetic condition. Skip to main content. 24/7 Help. For premium support please call: 800-290-4726 more ways to reach us. Sign in ...
Piriformis syndrome is a condition which is believed to result from nerve compression at the sciatic nerve by the piriformis muscle. [2][5] It is a specific case of deep gluteal syndrome. [6] The largest and most bulky nerve in the human body is the sciatic nerve. Starting at its origin it is 2 cm wide and 0.5 cm thick.
Dysautonomia, autonomic failure, or autonomic dysfunction is a condition in which the autonomic nervous system (ANS) does not work properly. This may affect the functioning of the heart, bladder, intestines, sweat glands, pupils, and blood vessels. Dysautonomia has many causes, not all of which may be classified as neuropathic. [5]
Genetics of Down syndrome. Down syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on chromosome 21, either in whole (trisomy 21) or part (such as due to translocations). The effects of the extra copy varies greatly from individual to individual, depending on the extent of the extra copy ...
Rhabdomyolysis (shortened as rhabdo) is a condition in which damaged skeletal muscle breaks down rapidly, often due to high intensity exercise over a short period of time. [6] [4] [5] Symptoms may include muscle pains, weakness, vomiting, and confusion. [3] [4] There may be tea-colored urine or an irregular heartbeat.