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Turner syndrome (TS), commonly known as 45,X, or 45,X0, [note 1] is a chromosomal disorder in which female cells have only one X chromosome instead of two, 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.
It is a feature of Turner syndrome [1] (only found in girls) and Noonan syndrome, [2] as well as the rarer Klippel–Feil syndrome, [3] or Diamond–Blackfan anemia. [ 4 ] References
Ullrich congenital muscular dystrophy (UCMD) is a form of congenital muscular dystrophy.There are two forms: UCMD1 and UCMD2. [4]UCMD1 is associated with variants of type VI collagen, while UCMD2 is associated with variants of type XII collagen.
The first described case of pure gonadal dysgenesis was in 1960, in a patient with presumed Turner syndrome but without the expected stigmata. [50] In 1951, Perrault, Klotz, and Housset reported the association of gonadal dysgenesis and deafness in two sisters, and this presentation is now called Perrault syndrome .
Turner syndrome is a condition in females in which there is partial or complete loss of one X chromosome. This causes symptoms such as growth and sexual development problems. In 15% of Turner syndrome patients, the structural abnormality is isochromosome X, which is composed of two copies of the q arm (i(Xq)).
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46, XX male syndrome, also known as de la Chapelle syndrome In this list, the karyotype is summarized by the number of chromosomes, followed by the sex chromosomes present in each cell. (In the second and third cases the karyotype varies from cell to cell, while in the last three cases, the genotype is normal but the phenotype is not.)
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