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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.
Almost all women with regular Turner syndrome are sterile, but those with 47,XXX cell lines are typically fertile. [29] Although women with trisomy X have lower IQs than the general population and women with Turner syndrome do not, intellectual disability does not appear to be more common in the mosaic than for non-mosaic Turner's. [30]
In 45,X/46,XY, most or all of the Y chromosome is lost in one of the newly created cells. All the cells then made from this cell will lack the Y chromosome. All the cells created from the cells that have not lost the Y chromosome will be XY. [11] The 46,XY cells will continue to multiply at the same time as the 45,X cells multiply.
Turner syndrome (Ullrich-Turner syndrome and gonadal dysgenesis) – a condition that describes a female born with only one X chromosome or with an abnormal X chromosome, making her karotype 45,X0. It occurs in 1 in 2,000 to 5,000 females. [ 61 ]
[41] [10] Intersex variations in sex chromosomes are associated with an increased risk of both type one and type two diabetes. [10] Turner syndrome, one such chromosomal intersex variation, is also associated with hypertension. [32] 23 to 50 percent of those with Turner syndrome are born with congenital heart abnormalities. [42]
Human conditions due to monosomy: Turner syndrome – Females with Turner syndrome typically have one X chromosome instead of the usual two X chromosomes. Turner syndrome is the only full monosomy that is seen in humans — all other cases of full monosomy are lethal and the individual will not survive development.
Scientists have found that not only do chromosomes provide the building blocks of human life, they may also play an integral role in fighting disease. Males lose sex chromosome as they age. It ...
Pentasomy X is unique amongst X-chromosome polysomies for its association with short stature, when most related disorders are associated with tall stature; [7] the average height in pentasomy X is one standard deviation below the norm. [8] Hypotonia, often severe, is a frequent finding, as are related musculoskeletal issues such as hip ...