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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
Ullrich congenital muscular dystrophy (UCMD) is a form of congenital muscular dystrophy.There are two forms: UCMD1 and UCMD2. [4]UCMD1 is associated with variants of type VI collagen, while UCMD2 is associated with variants of type XII collagen.
n/a Ensembl ENSG00000185960 n/a UniProt O15266 n/a RefSeq (mRNA) n/a n/a RefSeq (protein) NP_000442 NP_006874 n/a Location (UCSC) n/a n/a PubMed search n/a Wikidata View/Edit Human The short-stature homeobox gene (SHOX), also known as short-stature-homeobox-containing gene, is a gene located on both the X and Y chromosomes, which is associated with short stature in humans if mutated or present ...
Archibald's sign appears to be more common in individuals who have Turners syndrome. It also seems to be more commonly found in pseudohypoparathyroidism of Albright's hereditary osteodystrophy, brachydactyly , acrodysostosis , and occasionally with homocystinuria .
The first described case of pure gonadal dysgenesis was in 1960, in a patient with presumed Turner syndrome but without the expected stigmata. [50] In 1951, Perrault, Klotz, and Housset reported the association of gonadal dysgenesis and deafness in two sisters, and this presentation is now called Perrault syndrome .
Wilson–Mikity syndrome; Wilson–Turner syndrome; Winchester syndrome; Winter-over syndrome; Wiskott–Aldrich syndrome; Wissler's syndrome; Withdrawal syndrome; Withering abalone syndrome; Wobbly hedgehog syndrome; Wolcott–Rallison syndrome; Wolff–Parkinson–White syndrome; Wolfram syndrome; Wolf–Hirschhorn syndrome; Woodhouse ...
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.