47,XYY syndrome
ORPHA:8· ICD-10 Q98.5
Definition
A rare sex chromosome aneuploidy where males receive an additional Y chromosome, that 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.
- Prevalence
- 1-5 / 10 000
- Inheritance
- Not applicable
- Age of onset
- All ages