Trisomy 18p

What is Trisomy 18p?

A rare partial trisomy of the short arm of chromosome 18 manifesting with a highly variable clinical phenotype which may include variable developmental delay and intellectual disability, epilepsy, and non-specific dysmorphic features, among others.

Other condition names

  • Duplication 18p
  • Duplication of the short arm of chromosome 18
  • Trisomy of the short arm of chromosome 18

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Adolescent
  • Adult
  • Childhood
  • Infancy
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.