Partial duplication 8p due to interstitial duplication: inv dup(8)(p21.1----p22). Further delineation of the phenotype from birth to adulthood

Ann Genet. 1987;30(1):47-51.


We report on 2 patients, less than age 5 years, and one adult patient with partial duplication 8p, due to interstitial duplication of bands 8p21.1-22. The phenotype in young and adult patients with this chromosomal unbalance syndrome is further documented. In young patients the craniofacial manifestations are very similar to trisomy 8 mosaicism. However, mental retardation is much more pronounced in 8p21-22 duplication than in trisomy 8 mosaicism. The phenotypic changes observed in adult patients are probably secondary and they are due to the great neurologic deficit with generalized spasticity and hypertonia.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cells, Cultured
  • Child, Preschool
  • Chromosome Aberrations*
  • Chromosome Banding
  • Chromosome Disorders*
  • Chromosomes, Human, Pair 8*
  • Female
  • Humans
  • Infant
  • Karyotyping
  • Lymphocytes / cytology
  • Male
  • Trisomy*