Prenatal ascertainment of an inherited dup(18p) associated with an apparently normal phenotype

Am J Med Genet. 1991 Dec 1;41(3):319-21. doi: 10.1002/ajmg.1320410311.


Direct two-generation transmission of an unbalanced 18p+ chromosome was discovered after amniocentesis. Neither the mother nor the child exhibited apparent physical malformations or mental impairment. Banding analysis suggested a complete 18p duplication. Molecular studies verified the 18p origin of the duplicated material. Only 14 previous cases of duplication 18p have been reported and these exhibited either a normal phenotype or mild and inconsistent abnormalities. The present cases, as well as the review of literature, indicate that duplication 18p is associated with few or inapparent phenotypic abnormalities.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Amniocentesis*
  • Chromosomes, Human, Pair 18*
  • DNA / genetics
  • Female
  • Follow-Up Studies
  • Humans
  • Karyotyping
  • Multigene Family / genetics*
  • Phenotype


  • DNA