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Turner syndrome (TS), commonly known as 45,X, or 45,XO, [note 1] is a chromosomal 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.
The syndrome is defined by the presence of at least one extra X chromosome in addition to a Y chromosome, yielding a total of 47 or more chromosomes rather than the usual 46. Klinefelter syndrome occurs randomly. The extra X chromosome comes from the father and mother nearly equally.
In a normal situation, all the cells in an individual will have 46 chromosomes, with one being an X and one a Y or with two Xs. However, sometimes during the early copying processes of DNA replication and cell division, one chromosome can be lost. In 45,X/46,XY, most or all of the Y chromosome is lost in one of the newly created cells.
Turner syndrome, also known as 45,X or 45,X0, is a chromosomal abnormality characterised by a partial or completely missing second X chromosome, [4] [24] [25] giving a chromosomal count of 45, instead of the typical count of 46 chromosomes.
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]
Human conditions due to monosomy: Turner syndrome – Females with Turner syndrome typically have one X chromosome instead of the usual two X chromosomes. Turner syndrome is the only full monosomy that is seen in humans — all other cases of full monosomy are lethal and the individual will not survive development.
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Turner syndrome occurs due to partial or complete absence of one of the X chromosomes, resulting in 45,XO or 45,X. Some associated characteristics include short stature, a broad shield-like chest, webbed neck, premature ovarian failure, and heart and kidney abnormalities. [ 8 ]