Inv dup (8) (p21.1----22.1): further case report and a new hypothesis on the origin of the chromosome abnormality

Clin Genet. 1991 Jan;39(1):55-9. doi: 10.1111/j.1399-0004.1991.tb02985.x.


We report a male infant with a de novo inverted duplication of bands 8p 21.1----22.1. The clinical features up to 8 months of age and the enzyme investigations are described. A new cytogenetic hypothesis on the genesis of this rare chromosome aberration is also discussed.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Aberrations / genetics*
  • Chromosome Banding
  • Chromosome Deletion
  • Chromosome Disorders
  • Chromosomes, Human, Pair 8*
  • Glutathione Reductase / blood
  • Humans
  • Infant, Newborn
  • Male
  • Mutation
  • Trisomy*


  • Glutathione Reductase