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47,XYY syndrome

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.

ORPHA:8

  • Synonym(s):
    • Disomy Y
    • Double Y
  • Prevalence: 1-5 / 10 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: All ages
  • ICD-10: Q98.5
  • OMIM: -
  • UMLS: C0043379  C3266843
  • MeSH: C535317  D014997
  • GARD: 5674
  • MedDRA: 10056894

Additional information

Specialised Social Services

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