47 XXX syndrome

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Disease Overview

47 XXX syndrome, also called trisomy X or triple X syndrome, is characterized by the presence of an additional (third) X chromosome in each of a female’s cells (which normally have two X chromosomes). An extra copy of the X chromosome is associated with tall stature, learning problems, and other features in some girls and women. Seizures or kidney abnormalities occur in about 10 percent of affected females. 47 XXX syndrome is usually caused by a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes.[2868] Treatment typically focuses on specific symptoms, if present.[2869] Some females with 47 XXX syndrome have an extra X chromosome in only some of their cells; this is called 46,XX/47,XXX mosaicism.[2868]


Synonyms

  • Trisomy X
  • Triple X syndrome
  • Triple-X female
  • XXX syndrome
  • Triple-X chromosome syndrome
  • Triplo X syndrome

For more information, visit GARD.

National Organization for Rare Disorders