askvity

What disease is a missing chromosome?

Published in Genetic Disorders 1 min read

A missing chromosome can cause several diseases, one of which is Turner syndrome.

Turner Syndrome and Monosomy

Turner syndrome is a genetic disorder affecting females, and in about half of all cases, it's caused by a monosomy. Monosomy means a person is missing one chromosome in a pair. Instead of having the usual 46 chromosomes, individuals with Turner syndrome often have only 45. This missing chromosome is typically one of the sex chromosomes (an X chromosome).

Characteristics of Turner Syndrome

While not all individuals with Turner Syndrome present in the same way, common characteristics can include:

  • Short stature
  • Ovarian insufficiency (leading to infertility)
  • Heart defects
  • Learning difficulties

The absence of a complete or partial X chromosome affects development and can lead to these various health issues.

Related Articles