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Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic 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. [2][6][7] Most people have two sex ...
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,X0/47,XXX (with a Turner syndrome cell line), and 47,XXX/48,XXXX (with a tetrasomy X cell line). Complex mosaicism, with cell lines such as 45,X0/46,XX ...
Confined placental mosaicism. 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 ] CPM is diagnosed when some trisomic cells are detected on chorionic villus sampling and only normal cells ...
Mosaic (genetics) Tulip flower showing mosaicism. 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. Mosaicism is one of several possible causes of chimerism ...
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]
Klinefelter syndrome (KS), also known as 47,XXY, is a chromosome anomaly where a phenotypic male at birth has an extra X chromosome. [ 10 ] These complications commonly include infertility and small, poorly functioning testicles (if present). These symptoms are often noticed only at puberty, although this is one of the most common chromosomal ...
X-inactivation(also called Lyonization, after English geneticist Mary Lyon) is a process by which one of the copies of the X chromosomeis inactivated in therianfemale mammals. The inactive X chromosome is silenced by being packaged into a transcriptionally inactive structure called heterochromatin.
Turner syndrome results from a single X chromosome (45,X or 45,X0). Klinefelter syndrome, the most common male chromosomal disease, otherwise known as 47,XXY, is caused by an extra X chromosome. Edwards syndrome is caused by trisomy (three copies) of chromosome 18. Down syndrome, a common chromosomal disease, is caused by trisomy of chromosome 21.