Karyogram of a patient (f) with Turner's syndrome |
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Turner's syndrome is the only viable monosomy (45, XO). The prevalence amounts to 1: 2'500-5'000. The XO genotype leads to a female phenotype, accompanied by stunted growth and the development of dysfunctional ovaries.
Clinical picture:
- Dysgenesis of the gonads (at birth)
- Retarded growth
- Lymphatic oedema on the backs of the hands and feet
- Wide, shield-shaped thorax
- Wide, webbed neck (pterygium colli)
- Low hairline
- Typical face (sphinx)
- Frequent aortic coarctation, pulmonary stenosis
- Renal abnormalities
Macroscopic image
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