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Mosaicism or genetic mosaicism is a condition in which a multicellular organism possesses more than one genetic line as the result of genetic mutation. [ 1 ] [ 2 ] This means that various genetic lines resulted from a single fertilized egg .
Germline mosaicism, also called gonadal mosaicism, is a type of genetic mosaicism where more than one set of genetic information is found specifically within the gamete cells; conversely, somatic mosaicism is a type of genetic mosaicism found in somatic cells.
Mosaicism [ edit ] The cause of this condition happens in early development resulting from a single fertilized zygote 's cell line divided into two cell lines; a genome that contains a characterized by the presence of some cells that express a 46,XX karyotype and some cells that express a 46,XY karyotype.
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]
Confined placental mosaicism (CPM) represents a discrepancy between the chromosomal makeup of the cells in the placenta and the cells in the fetus. CPM was first described by Kalousek and Dill in 1983. [ 1 ]
An application of the study of somatic mosaicism in the brain could be the tracing of specific brain cells. Indeed, if the somatic L1 insertions occurs in a progenitor cell, the unique variant could be used to trace the progenitor cell's development, localization, and spreading through the brain. On the contrary, if the somatic L1 insertion ...
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.
Diploid-triploid mosaicism is a human chromosome disorder. Individuals with diploid-triploid syndrome have some cells with three copies of each chromosome for a total of 69 chromosomes (called triploid cells) and some cells with the usual 2 copies of each chromosome for a total of 46 chromosomes (called diploid cells).