48,XXXY syndrome

Summary: 48,XXXY syndrome is a type of chromosome abnormality characterized by the presence of 2 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 48,XXXY syndrome

Symptoms: The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. Signs and Symptoms

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Treatments: 48,XXXY syndrome

Treatment: There is no cure for 48,XXXY syndrome. Treatment depends on the symptoms present in each individual and is best managed by a team of specialists, including cardiologists, orthopedists, speech therapists, neurologists, and endocrinologists. Life expectancy is generally normal ...2

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Names and Terminology

Related Diseases: The following diseases are related to 48,XXXY syndrome. If you have a question about any of these diseases, you can contact GARD ...3

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  1. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 5676/ 48xxxy-syndrome
  2. ibid.
  3. ibid.

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