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Turner Syndrome

This is the first disorder recognized to have chromosomal basis. The incidence is approximately 1 in 2500.

Chromosomal abnormality in Turner syndrome.

45 XO               ----------    60%

Mosaic pattern     ---------     40%

  1. With normal cell line      45 XO/46XX
  2. With isochromosome     45 XO/46X,i
  3. With ring chromosome   45 XO/46X,r
  4. With fragment                45 XO/46 fra.
  5. With Y chromosome        45 XO/46XY 

This single x is of maternal origin in about 75% of 45 XO patientQ. The presence of XY cell line mosaic Turner syndrome may be associated with virilization and 20% risk of gonadoblastoma. Q


Clinical Features


At birth -  edema of the dorsa of the hands and feet. Q             

  1. Loose skin fold at nape of neck
  2. Low birth weight and decreased length.


  1. Webbed neck,
  2. Low posterior hair line
  3. Small mandible, prominent ear
  4. Epicanthic fold
  5. Broad chest, widely spaced nipples
  6. Cubitus valgus
  7. Gonadal dysgenesis (Streak gonads) Q
  • Short stature is the cardinal finding in all girls
  • Diagnosis is often suspected at puberty when sexual maturation fail to occur. 

Other associated defects

CVS - Bicuspid aortic valve (50%)Q
       - Coarctation of aorta (20%)
       ​- Mitral valve prolapse
       ​- Idiopathic Hypertension
Renal  -  Pelvic Kidney
       ​       ​Horse shoe Kidney
             ​ ​Double Collecting System
             ​ ​Absence of one kidney 
Other  -  Hypothyrodism
           ​Abnormal glucose tolerance
       ​    ​Elevated Cholesterol level
       ​    ​Inflammatory bowel disease
       ​    ​Recurrent bilateral otitis media

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