Turner's Syndrome

Turner's Syndrome: Overview

Turner's Syndrome is a rare chromosomal disorder of females (some 1 in 2,500) characterized by short stature and the lack of sexual development at puberty.

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This syndrome was first described by H.H. Turner in 1938.

Causes and Development

Normally, females have two X chromosomes.  In some cases of Turner's Syndrome, however, one X chromosome is missing from the cells; research studies suggest that approximately 40% of these individuals may have some Y chromosomal material in addition to the one X chromosome.  In other affected females, both X chromosomes may be present, but one may have genetic defects.  In still other cases, some cells may have the normal pair of X chromosomes while other cells do not.  Although the exact cause of Turner's Syndrome is not known, it is believed that the disorder may result from an error during the division of a parent's sex cells.

Signs and Symptoms

Other physical features may include a webbed neck, heart defects, kidney abnormalities and/or various other malformations.

Clinical Abnormalities and Approximate Incidence:

  • Short Stature (100%)
  • Ovarian Failure (90%)
  • Puffy hands and feet (80%)
  • Broad chest (80%)
  • Low posterior hairline (80%)
  • Unusual shape and rotation of ears (80%)
  • Small lower jaw (70%)
  • Inner canthal folds (70%)
  • Arms turned out slightly at elbows (70%)
  • Soft upturned nails (70%)
  • Kidney anomalies (60%)
  • Shortened 4th digits (50%)
  • Webbed neck (50%)
  • Pigmented nevi (small brown moles) (50%)
  • Cardiac anomalies (50%)
  • Hearing loss (50%)
  • Narrow, high-arched palate (40%)

Occasional Abnormalities:

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