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Turner syndrome (TS), commonly known as 45,X, or 45,XO, [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 ] References
Henry Hubert Turner (August 28, 1892 – August 4, 1970) was an American endocrinologist, noted for his published description of Turner syndrome in 1938 at the annual meeting of the Association for the Study of Internal Secretions.
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.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
It is not uncommon for patients to be diagnosed later in life due to short stature or delayed puberty, or a combination of both. [ 8 ] 45,X/46,XY mosaicism can be detected prenatally through amniocentesis however, it was determined that the proportion of 45,X cells in the amniotic fluid cannot predict any phenotypic outcomes, often making ...
Kathleen Turner, Matthew Perry Getty Images(2) Kathleen Turner, who played Matthew Perry’s dad on Friends, shared her memories of the actor after his shocking death at age 54. “I liked him ...
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 ...