Direct transmission of a tandem duplication in the short arm of chromosome 8

Clin Genet. 1994 Jan;45(1):36-9. doi: 10.1111/j.1399-0004.1994.tb03987.x.


A family is described in which a mother and her two children carry a tandem duplication of the short arm of chromosome 8. Their phenotypes are similar and characterised by distinct facial dysmorphism, small stature and mild mental retardation. This is one of the first cases of direct familial transmission of a partial duplication of an autosomal chromosome segment.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child, Preschool
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Chromosomes, Human, Pair 8*
  • Family
  • Female
  • Humans
  • Infant
  • Male
  • Phenotype