Familial Turner Syndrome
The most common sex chromosome disorder in females, characterized by short stature, webbed neck, broad shield-like chest, wide-spaced nipples, increased carrying angle at the elbow (cubitus valgus), short fourth finger, and malformations of the heart and aorta.
- Short stature and non-functioning ovaries which causes infertility,
- Some women may also have extra skin on the neck (webbed neck),
- Puffiness or swelling (lymphedema) of the hands and feet,
- Skeletal abnormalities,
- Heart defects,
- High blood pressure,
- And kidney problems.
Caused by partial or complete loss of one of the x chromosomes in cells of females. Females without turner syndrome have 2 full x chromosome in all of their cells (and males have one x chromosome and one y chromosome ). The missing genetic material affects development before and after birth.