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Turner syndrome (TS), commonly known as 45,X, or 45,X0, [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.
As of April 2021, the syndrome had only been identified in the province of New Brunswick, with thirty-five cases in the Acadian Peninsula, eight cases in the Moncton region and one case of undisclosed origin. [34] The mayor of Caraquet said that the town was "trying to live normally, but everybody has that in the back of their mind". [11]
In some cases, cryopreservation is used to maintain reproductive options. For those with Turner syndrome who experience sponanteous puberty and periods, primarily those with 45X/46XX mosaicism, eggs may be cryopreserved. [59] In 2022, the first successful live birth using this method on a mother with mosaic Turner syndrome was documented. [60]
This includes patients with Turner Syndrome (45,X or 45,X0) and Klinefelter Syndrome (47,XXY) even though they do not generally present with atypical genitals. XX, Sex reversal : consist of two groups of patients with male phenotypes, the first with translocated Sex-determining region Y protein (SRY) and the second with no SRY gene.
Turner syndrome is usually not diagnosed until a delayed onset of puberty with Müllerian structures found to be in infantile stage. [4] Physical phenotypic characteristics include short stature, dysmorphic features and lymphedema at birth. [23] Comorbidities include heart defects, vision and hearing problems, diabetes, and low thyroid hormone ...
The Turner syndrome was described as "a syndrome of infantilism" by Henry Turner himself. [2] Terms such as "genital infantilism" (infantilism in development of genitals, hypogenitalism), or "sexual infantilism" (lack of sexual development after expected puberty or delayed puberty) may still be seen, and are considered to be synonyms of ...
"National Guideline Clearinghouse | Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular and Electrodiagnostic Medicine".
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.