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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
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
X-linked intellectual disability and macroorchidism (fragile X syndrome) X: X-linked spinal-bulbar muscle atrophy (spinal and bulbar muscular atrophy) X: Xp11.2 duplication syndrome Xp11.2: D [34] 1:1,000,000 X-linked severe combined immunodeficiency (X-SCID) X: X-linked sideroblastic anemia (XLSA) ALAS2 (X) 47,XXX (triple X syndrome) X C 1: ...
Turner syndrome results from a single X chromosome (45,X or 45,X0). Klinefelter syndrome, the most common male chromosomal disease, otherwise known as 47,XXY, is caused by an extra X chromosome. Edwards syndrome is caused by trisomy (three copies) of chromosome 18. Down syndrome, a common chromosomal disease, is caused by trisomy of chromosome 21.
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 children were born in the U.S. and have spent the vast majority of their lives in the U.S. They are American citizens,” read the statement. Sophie Turner and Joe Jonas Rare Quotes About ...
A lethal version [6] of this condition exists, known as Cowchock–Wapner–Kurtz syndrome, that, in addition to cystic hygroma, includes cleft palate and lymphedema, a condition of localized edema and tissue swelling caused by a compromised lymphatic system.