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Histopathology of ovarian tissue in mosaic (A and B) and full (C) Turner syndrome. Puberty is delayed or absent in Turner syndrome. A 2019 literature review found that 13% of women with a 45,X0 karyotype could expect to experience spontaneous thelarche (breast development), while 9% would undergo spontaneous menarche (beginning of menstruation).
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.
46,XX/46,XY chimeric or mosaic is associated with a wide spectrum of different physical presentations, with cases ranging from having a completely normal male or female phenotype [7] [8] [9] to some cases having ovotesticular syndrome. Due to this variation, genetic testing is the only way to reliably make a diagnosis. [11] [12] [13] [6]
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. Revertant somatic mosaicism is a rare recombination event with a spontaneous correction of a mutant, pathogenic allele . [ 19 ]
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]
Sonja Rasmussen, M.D., professor of genetic medicine at the Johns Hopkins University School of Medicine, explains how Down syndrome and mosaic Down syndrome differ. “Typically, we all have 46 ...
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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. [72] In 2022, the first successful live birth using this method on a mother with mosaic Turner syndrome was documented. [73]