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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.
46, XX male syndrome, also known as de la Chapelle syndrome In this list, the karyotype is summarized by the number of chromosomes, followed by the sex chromosomes present in each cell. (In the second and third cases the karyotype varies from cell to cell, while in the last three cases, the genotype is normal but the phenotype is not.)
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.
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 ...
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 ...
A number of genetic conditions are associated with heart defects, including Down syndrome, Turner syndrome, and Marfan syndrome. [3] Congenital heart defects are divided into two main groups: cyanotic heart defects and non-cyanotic heart defects, depending on whether the child has the potential to turn bluish in color. [3]