Turner syndrome – 45,X0
Turner syndrome is associated with the total or partial absence (complete or partial monosomy) of chromosome X. Even though patients with Turner syndrome only have one normal X chromosome, all of them are women.
The prevalence is between 1/2000 to 1/5000 live female births. Around 1% of all conceptions present with monosomy X. Of these, the majority end in spontaneous abortion, generally during the first week of pregnancy. There is a reduced life expectancy.
Most frequent clinical findings in patients with Turner syndrome – 45,X0)
- Short stature
- Birth with a low hairline at the back of the neck
- Thyroid hormone deficiency (hypothyroidism)
- High arterial pressure (hypertension)
- Renal problems
- Congenital heart defects
- Breast underdevelopment
- Skeletal anomalies
- Increased weight
The majority of women with Turner syndrome have normal intelligence.
Tsint.org – Turner Syndrome International
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