Partial 8p trisomy due to interstitial duplication: karyotype: 46, XX, inv dup(8) (p21.1----p22)

Clin Genet. 1985 Dec;28(6):546-9. doi: 10.1111/j.1399-0004.1985.tb00424.x.


A 24-year-old female with severe mental retardation, congenital malformations and dysmorphic features is described. 8p trisomy due to a de novo inv dup(8) (p21.1----p22) was found in her karyotype. Other published cases with 8p trisomy are reviewed.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosome Banding
  • Chromosome Inversion
  • Chromosomes, Human, 6-12 and X*
  • Female
  • Humans
  • Intellectual Disability / genetics*
  • Karyotyping
  • Trisomy*