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Turner syndrome (TS), commonly known as 45,X, or 45,X0, [note 1] is a chromosomal disorder in which female cells have only one X chromosome instead of two, 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.
This syndrome can begin with severe shoulder or arm pain followed by weakness and numbness. [5] Those with Parsonage–Turner experience acute, sudden-onset pain radiating from the shoulder to the upper arm. Affected muscles become weak and atrophied, and in advanced cases, paralyzed. Occasionally, there will be no pain and just paralysis, and ...
Trisomy 18, also known as Edwards syndrome, is a genetic disorder caused by the presence of a third copy of all or part of chromosome 18. [3] Many parts of the body are affected. [ 3 ] Babies are often born small and have heart defects . [ 3 ]
This includes patients with Turner Syndrome (45,X or 45,X0) and Klinefelter Syndrome (47,XXY) even though they do not generally present with atypical genitals. XX, Sex reversal : consist of two groups of patients with male phenotypes, the first with translocated Sex-determining region Y protein (SRY) and the second with no SRY gene.
Around 5% of females with Turner syndrome, defined by a karyotype with a single copy of the X chromosome, have a 47,XXX cell line. [14] Mosaic karyotypes with both 45,X and 47,XXX cells are considered Turner syndrome rather than trisomy X, but the presence of 47,XXX cells influences the disorder, [ 28 ] with milder effects than non-mosaic ...
When Marsha McCarty-Coombs was diagnosed with Conn's Syndrome at the age of 39, doctors told her to "get her papers in order" as she may have less than two years left to live. Now at 59, she has ...
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
A condition plaintiffs allege they received from the vaccine is postural orthostatic tachycardia syndrome (POTS). The chronic disorder presents as dizziness or fainting after reduced blood volume ...