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47,XYY syndrome

Synonym(s) Disomy Y
Double Y
Prevalence 1-5 / 10 000
Inheritance Not applicable
or Unknown
Age of onset All ages
  • Q98.5
  • C0043379
  • C535317
  • D014997
  • 10056894


Disease definition

47, XYY syndrome is a sex chromosome aneuploidy where males receive an additional Y chromosome, and is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder.

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