Mosaic Turner Syndrome

What is Mosaic Turner Syndrome?
Mosaic Turner syndrome occurs when some cells are missing the second X chromosome. Mosaic Turner Syndrome can affect any cell in the body. Some cells have X chromosomes and some don’t. Every 3 out of every 10 girls with Turner Syndrome will have some form of Mosaic Turner Syndrome. Women and girls with Mosaic TS tend to have fewer signs and health problems than those with typical TS, because in typical TS all of the cells in the body are missing the second X chromosom.


Signs of Mosaic Turner syndrome and Turner syndrome can be similar:

  • Height usually under 5 feet
  • Droopy (heavy) eyelids (ptosis)
  • Differences in ear shape and position
  • Webbed neck (extra skin)
  • Arms or feet that are puffy (lymphedema)
  • Often, broad chest
  • High-arched roof of the mouth
  • Teeth that are crowded
  • Trouble with certain types of math
  • Learning difficulties in school
  • Reduced fertility
  • Delayed or absent periods

Keywords: mosaic Turner syndrome, mosaicism Turner syndrome, Turner syndrome mosaic


* The Content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.