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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. It is a fairly rare chromosomal disorder at birth, with an estimated incidence rate of about 1 in 15,000 live births. [2]
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]
Trisomy 8 mosaicism affects wide areas of chromosome 8, containing many genes, and can thus be associated with several symptoms. Mosaic trisomy 8 has been reported in rare cases of Rothmund–Thomson syndrome, a genetic disorder associated with the DNA helicase RECQL4 on chromosome 8q24.3.
Gonosomal mosaicism is a type of somatic mosaicism that occurs very early in the organisms development and thus is present within both germline and somatic cells. [1] [22] Somatic mosaicism is not generally inheritable as it does not usually affect germ cells. In the instance of gonosomal mosaicism, organisms have the potential to pass the ...
In cases of mosaicism, the symptoms are usually fewer, and possibly none occur at all. [13] Diagnosis is based on physical signs and genetic testing. [3] No cure for Turner syndrome is known. [14] Treatment may help with symptoms. [14] Human growth hormone injections during childhood may increase adult height. [14]
Confined placental mosaicism (CPM) represents a discrepancy between the chromosomal makeup of the cells in the placenta and the cells in the fetus.
Any rash rapidly changing or associated with severe symptoms should be seen promptly,” he says. ... skin discoloration conditions such as vitiligo and pigmentary mosaicism, hair disorders and ...
Mosaic trisomy X can have different outcomes to the non-mosaic condition and further contributes to the variability seen in Trisomy X. [14] Common mosaic forms observed include 46,XX/47,XXX, 45,X/47,XXX (with a Monosomy X cell line), and 47,XXX/48,XXXX (with a tetrasomy X cell line). Complex mosaicism, with cell lines such as 45,X/46,XX/47,XXX ...