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Turner syndrome (TS), commonly known as 45,X, or 45,X0, [note 1] is a chromosomal disorder in which cells have only one X chromosome or are partially missing an X chromosome (sex chromosome monosomy) leading to the complete or partial deletion of the pseudoautosomal regions (PAR1, PAR2) in the affected X chromosome.
It is a feature of Turner syndrome [1] (only found in girls) and Noonan syndrome, [2] as well as the rarer Klippel–Feil syndrome, [3] or Diamond–Blackfan anemia. [4]
While Turner syndrome has similarities with renal anomalies and developmental delay, Turner syndrome is only found in females and often expresses differently. In Turner syndrome, there is a lower incidence of developmental delays, left-sided heart defects are constant and the occurrence of renal abnormalities is much lower. [36] Other RASopathies
Turner syndrome, one such chromosomal intersex variation, is also associated with hypertension. [32] 23 to 50 percent of those with Turner syndrome are born with congenital heart abnormalities. [42] According to the Journal of the American Heart Association, fetuses with confirmed or suspected Turner syndrome should receive a fetal ...
Stiff person syndrome is a rare autoimmune neurological disorder that causes stiffness and muscle spasms in the body, according to the National Institute of Neurological Disorders and Stroke ...
Turner syndrome is the only full monosomy that is seen in humans — all other cases of full monosomy are lethal and the individual will not survive development. Cri du chat syndrome – (French for "cry of the cat" after the persons' malformed larynx) a partial monosomy caused by a deletion of the end of the short arm of chromosome 5
Céline Dion celebrated International Stiff Person Syndrome Day amidst her battle with the disorder by sharing a rare photo of her children. “Today the world recognizes International SPS ...
Happy birthday to Joe Jonas! The musician turned 32 on Sunday, and his wife, Sophie Turner, couldn't help but celebrate with new pics. The Game of Thrones star shared two new snaps of her husband ...