Turner syndrome

Rare card · No. 24931

Turner syndrome (TS), commonly known as 45,X, or 45,X0, is a chromosomal disorder in which cells of females 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 (PAR1, PAR2) in the affected X chromosome (these are called pseudoautosomal regions). Humans typically have two sex chromosomes, XX for females or XY for males. 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 a short neck that is webbed or wide, arched palate, low-set ears, low hairline at the nape of the neck, short stature, and lymphedema of the hands and feet. Those affected do not normally develop menstrual periods or mammary glands without hormone treatment and are unable...

Read on Wikipedia · Image Paul Kruszka, Yonit A Addissie, Cedrik Tekendo-Ngongang, Kelly L Jones, Sarah K Savage, Neerja Gupta, Nirmala D Sirisena, Vajira H W Dissanayake, C Sampath Paththinige, Teresa Aravena, Sheela Nampoot…, Public domain