Duplication of euchromatin without phenotypic effects: a variant of chromosome 16

Am J Med Genet. 1990 May;36(1):43-4. doi: 10.1002/ajmg.1320360110.


A family with an unusual variant of chromosome 16 is presented. The mother and son both with additional material present in the short arm of chromosome 16 adjacent to the centromere are phenotypically normal. The extra C-band negative region has been shown not to be composed of alpha satellite DNA. The literature regarding other familial cases of what appears to be the same variant of chromosome 16 is reviewed.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromatin / ultrastructure*
  • Chromosome Aberrations*
  • Chromosome Banding
  • Chromosomes, Human, Pair 16*
  • Female
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Male
  • Phenotype
  • Pregnancy


  • Chromatin