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45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis, [1] is a mutation of sex development in humans associated with sex chromosome aneuploidy and mosaicism of the Y chromosome.
Turner syndrome occurs in between one in 2,000 [4] and one in 5,000 females at birth. [5] All regions of the world and cultures are affected about equally. [10] Generally people with Turner syndrome have a shorter life expectancy, mostly due to heart problems and diabetes. [7] American endocrinologist Henry Turner first described the condition ...
[3] [10] For example, of 28 cases of mosaic polyploidy detected on CVS, fetal mosaicism was confirmed in only one case. This is compared to marker chromosomes detected on CVS, in which mosaicism was confirmed in 1/4 of the fetuses.
The only non-lethal full monosomy occurring in humans is the one causing Turner's syndrome. Around 30% of Turner's syndrome cases demonstrate mosaicism, while complete monosomy (45, X) occurs in about 50–60% of cases. Mosaicism isn't necessarily deleterious, though.
In some cases, cryopreservation is used to maintain reproductive options. For those with Turner syndrome who experience sponanteous puberty and periods, primarily those with 45X/46XX mosaicism, eggs may be cryopreserved. [60] In 2022, the first successful live birth using this method on a mother with mosaic Turner syndrome was documented. [61]
Complete trisomy 8 causes severe abnormalities in the developing fetus and can be a cause of miscarriage. [2] [3] Complete trisomy 8 is usually a gestational lethal condition, whereas trisomy 8 mosaicism is less severe and individuals with a low proportion of affected cells may exhibit a comparatively mild range of physical abnormalities and developmental delay. [4]
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]
Because of the risk of gonadoblastoma, individuals with Turner syndrome with detectable Y chromosome material (Mosaic Turner syndrome) should have their gonads prophylactically removed. In a population-based study, the cumulative risk for women with Turner syndrome and Y chromosome material was 7.9 percent by age 25 years. [5]