Karyogram of a patient (f) with Turner's syndrome

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

© Labor MCL Duedingen