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Turner syndrome

Turner syndrome (TS), commonly known as 45,X, or 45,XO, 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. Most people have two sex chromosomes (XX or XY). The chromosomal abnormality is often present in just some cells, in which case it is known as Turner syndrome with mosaicism. 45,X0 with mosaicism can occur in males or females, but Turner syndrome without mosaicism only occurs in females. Signs and symptoms vary among those affected but often include additional skin folds on the neck, arched palate, low-set ears, low hairline at the nape of the neck, short stature, and lymphedema of the hands and feet. Typically, those affected do not develop menstrual periods or mammary glands without hormone treatment and are unable to reproduce...

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wikidata.org 0 views · 2024-12-26 22:39:53