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Trisomy X syndrome – 47,XXX

Trisomy of chromosome X, also known as triple X syndrome, is the most common female trisomy and has a variable phenotype caused by the presence of an extra chromosome X.

The prevalence is estimated at 1 in 1000 female births. Life expectancy is normal.

Most frequent clinical findings in patients with 47, XXX syndrome:

Triple X syndrome does not normally present with unusual physical characteristics or medical problems, although women with this condition are often taller than average.

However, there are exceptional cases in which various symptoms have been reported such as:

  • Weak muscle tone
  • Folds in the upper eyelid
  • Seizures
  • Renal and genitourinary anomalies
  • Delays in the motor system and language, possible cognitive deficits and problems with learning
  • Emotional and behavioral difficulties (attention deficit disorder, anxiety, depression)

Additional information

Orpha.net – The portal for rare diseases and orphan drugs

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