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.