Turner syndrome

Turner syndrome affects females and is due to the partial or total absence of one X chromosome. 

Incidence is around 1 in 3000 live female births

Features include:
  • Congenital heart defects – occur in 1/3; most commonly
  • Short stature 
  • Widely-spaced nipples 
  • Webbed neck 
  • Prominent ears 
  • Short fourth metacarpals 
  • Cubitus vulgaris 
  • Lack of spontaneous puberty
  • Congenital lymphoedema 

Complications associated with Turner syndrome include 
  • Osteoporosis
  • Sensorineural hearing loss
  • Aortic root dilation

Diagnosis is by karyotyping 

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