Some causes of genotypic and phenotypic discordance in monozygotic twin pairs

Am J Med Genet. 1996 Jan 22;61(3):216-28. doi: 10.1002/(SICI)1096-8628(19960122)61:3<216::AID-AJMG5>3.0.CO;2-S.


The use of the adjective "identical" rather than monozygotic leads to misunderstandings about the biology of monozygotic twinning. Most monozygotic twin pairs are not identical; there may be major discordance for birth weight, genetic disease, and congenital anomalies. These indicate that postzygotic events may lead to the formation of two or more cell clones in the inner cell mass and early embryo that actually stimulate the monozygotic twinning event. There is also evidence that there may be unequal allocation of numbers of cells to the monozygotic twins; this may have widespread implications for the cascade of developmental events during embryogenesis, formation, and vascularization of the placenta. Large-scale zygosity testing at birth could be the template for analysis of twin outcomes and their biologic causes.

Publication types

  • Review

MeSH terms

  • Chorion / chemistry
  • DNA / analysis
  • Dosage Compensation, Genetic
  • Embryonic and Fetal Development
  • Female
  • Genetic Variation
  • Genotype
  • Humans
  • Male
  • Models, Genetic
  • Mosaicism
  • Mutation
  • Phenotype
  • Placenta / blood supply
  • Pregnancy
  • Twins, Monozygotic / genetics*
  • Zygote / chemistry


  • DNA