Diseases

Familial Turner Syndrome

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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.

SYMPTOMS

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.

CAUSES

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.