49,XXXXY syndrome

Summary: 49,XXXXY syndrome is a type of chromosome abnormality characterized by the presence of 3 extra X chromosomes in males. It is sometimes referred to as a variant of Klinefelter syndrome, but differs from Klinefelter syndrome in many ways ...1

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Symptoms of 49,XXXXY syndrome

Symptoms: 49,XXXXY syndrome can affect many parts of the body. Affected people typically have delayed growth (often seen in utero, before birth).[1] Some have short stature and a deficit of growth hormones.[1] There may be varying degrees ...2

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Causes of 49,XXXXY syndrome

Cause: 49,XXXXY syndrome occurs by chance due to a random error in cell division (called nondisjunction) in the egg cells of the mother.[1, 2] During normal egg formation, chromosomes separate and a single X chromosome ends up in ...3

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Treatments: 49,XXXXY syndrome

Treatment: There is no cure for 49,XXXXY syndrome. Treatment depends on the symptoms present in each person and is often managed by a team of various specialists. Specialists involved in the care of an affected person may include heart ...4

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Names and Terminology

Related Diseases: The following diseases are related to 49,XXXXY syndrome. If you have a question about any of these diseases, you can contact GARD ...5

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References

  1. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 5679/ 49xxxxy-syndrome
  2. ibid.
  3. ibid.
  4. ibid.
  5. ibid.

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