Turner Syndrome

Turner syndrome or Ullrich–Turner syndrome (also known as "Gonadal dysgenesis"), 45,X, encompasses several conditions in human females, of which monosomy X (absence of an entire sex chromosome, the Barr body) is most common. It is a chromosomal abnormality in which all or part of one of the sex chromosomes is absent (unaffected humans have 46 chromosomes, of which two are sex chromosomes). Normal females have two X chromosomes, but in Turner syndrome, one of those sex chromosomes is missing or has other abnormalities. In some cases, the chromosome is missing in some cells but not others, a condition referred to as mosaicism or "Turner mosaicism".

Occurring in 1 in 2000 – 1 in 5000 phenotypic females, the syndrome manifests itself in a number of ways. There are characteristic physical abnormalities, such as short stature, swelling, broad chest, low hairline, low-set ears, and webbed necks. Girls with Turner syndrome typically experience gonadal dysfunction (non-working ovaries), which results in amenorrhea (absence of menstrual cycle) and sterility. Concurrent health concerns are also frequently present, including congenital heart disease, hypothyroidism (reduced hormone secretion by the thyroid), diabetes, vision problems, hearing concerns, and many autoimmune diseases. Finally, a specific pattern of cognitive deficits is often observed, with particular difficulties in visuospatial, mathematical, and memory areas.

Turner's syndrome is named after Henry H. Turner.

Read more about Turner SyndromeSigns and Symptoms, Cause, Prognosis, Treatment, Epidemiology, History

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Parsonage-Turner Syndrome
... Parsonage–Turner syndrome is also known as acute brachial neuropathy and acute brachial radiculitis ... Other names used are Parsonage–Aldren–Turner syndrome, neuralgic amyotrophy, brachial neuritis, brachial plexus neuropathy, or brachial plexitis ... The idiopathic syndrome refers to a rare set of symptoms resulting from inflammation of unknown etiology of the brachial plexus ...
Chromosome - Aberrations
... a cell and are a major cause of genetic conditions in humans, such as Down syndrome, although most aberrations have little to no effect ... Down syndrome, the most common trisomy, usually caused by an extra copy of chromosome 21 (trisomy 21) ... Edwards syndrome, or trisomy-18, the second-most-common trisomy ...
List Of Genetic Disorders - Full List
... Disorder name Mutation type Chromosome 1p36 deletion syndrome D 1p36 18p deletion syndrome D 18p 21-hydroxylase deficiency 6p21.3 45,X C X 47,XX,+21 C 21 47,XXX C X 47,XXY C X 47 ...
Turner Syndrome - History
... The syndrome is named after Henry Turner, an endocrinologist from Illinois, who described it in 1938 ... In Europe, it is often called Ullrich–Turner syndrome or even Bonnevie–Ullrich–Turner syndrome to acknowledge that earlier cases had also been described by European doctors ... It was found in a 14-year-old girl with signs of Turner syndrome ...

Famous quotes containing the words syndrome and/or turner:

    Women are taught that their main goal in life is to serve others—first men, and later, children. This prescription leads to enormous problems, for it is supposed to be carried out as if women did not have needs of their own, as if one could serve others without simultaneously attending to one’s own interests and desires. Carried to its “perfection,” it produces the martyr syndrome or the smothering wife and mother.
    Jean Baker Miller (20th century)

    We inherit plots.... There are only two or three in the world, five or six at most. We ride them like treadmills.
    —Janette Turner Hospital (b. 1942)