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48,XXYY syndrome

Disease definition

The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males.

ORPHA:10

  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Infancy, Neonatal, Childhood, Adolescent
  • ICD-10: Q98.8
  • OMIM: -
  • UMLS: C2936741
  • MeSH: D007713
  • GARD: -
  • MedDRA: 10048230

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