Short Stature (mean height < 5 feet)

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Turners Syndrome
Background
Described in 1938 by Henry Turner Cause isolated
in 1960 (loss of one/part of one sex chromosome)
Physical Symptoms

• Short Stature (mean height lt 5 feet)
• Failure to develop secondary sex characteristics
• Maldeveloped Ovaries (infertility high risk of
  ovarian cancer)
• Variety of medical problems cardiovascular,
  kidney, pancreas, skeletal, thyroid MARKED
  VARIABLE EXPRESSIVITY
• Minor physical anomalies webbed neck, low set
  ears, puffy hands and feet MARKED VARIABLE
  EXPRESSIVITY

Behavioral Symptoms

• Normal intelligence
• Normal personality (problems of self-esteem and
  body image that may be associated with physical
  anomalies)
• Lowered spatial-visualization and quantitative
  reasoning
• ? Higher stereotypical feminine interests

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Turners Syndrome Karyotype
http//www.genecrc.org/site/lc/lc2e.htm