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Turner syndrome occurs in between one in 2,000 [4] and one in 5,000 females at birth. [5] All regions of the world and cultures are affected about equally. [9] Generally people with Turner syndrome have a shorter life expectancy, mostly due to heart problems and diabetes. [7] American endocrinologist Henry Turner first described the condition ...
Progeria. A young girl with progeria (left). A healthy cell nucleus (right, top) and a progeric cell nucleus (right, bottom). Progeria is a specific type of progeroid syndrome, also known as Hutchinson–Gilford syndrome or Hutchinson–Gilford progeroid syndrome (HGPS). [8]
Parsonage–Turner syndrome, also known as acute brachial neuropathy, neuralgic amyotrophy and abbreviated PTS, is a syndrome of unknown cause; although many specific risk factors have been identified (such as; post-operative, post-infectious, post-traumatic or post-vaccination), [4] the cause is still unknown. The condition manifests as a set ...
Stephanie Turner (1993 [31] – 2017 [32]) third oldest in the US with the same condition, and the first ever to give birth. Turner's two children do not have the disease. She died on March 3, 2017, at age 23. [33] Mason van Dyk (born 2013), despite being given a life expectancy of one to five days, is 10 years old as of January 2024. [34]
approximately 1 in 1,000 (female) Trisomy X, also known as triple X syndrome and characterized by the karyotype [note 1] 47,XXX, is a chromosome disorder in which a female has an extra copy of the X chromosome. It is relatively common and occurs in 1 in 1,000 females, but is rarely diagnosed; fewer than 10% of those with the condition know they ...
Life expectancy may be shortened by respiratory complications arising from weakness of the muscles that aid breathing and swallowing. It was first described in four patients by Vucic and colleagues [ 3 ] working at the Massachusetts General Hospital in the United States ; subsequent reports from the United Kingdom, [ 4 ] Europe and Asia [ 5 ...
Wilson-Turner syndrome (WTS), also known as mental retardation X linked syndromic 6 (MRXS6), and mental retardation X linked with gynecomastia and obesity is a congenital condition characterized by intellectual disability and associated with childhood-onset obesity. [1] It is found to be linked to the X chromosome and caused by a mutation in ...
Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy predominantly affecting boys. [3][6][7] The onset of muscle weakness typically begins around age four, with rapid progression. [2] Initially, muscle loss occurs in the thighs and pelvis, extending to the arms, [3] which can lead to difficulties in standing up. [3]