48,XXYY syndrome

What is 48,XXYY syndrome?

A rare sex chromosome number anomaly disorder characterized, genetically, by the presence of an extra X and Y chromosome in males and, clinically, by tall stature, dysfunctional testes associated with infertility and insufficient testosterone production, cognitive, affective and social functioning impairments, global developmental delay, and an increased risk of congenital malformations.

Inheritance type

Not applicable, Unknown

Age of Onset

  • Adolescent
  • Childhood
  • Infancy
  • Neonatal
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