Chimerism in monochorionic dizygotic twins: case study and review

Am J Med Genet A. 2013 Jul;161A(7):1817-24. doi: 10.1002/ajmg.a.35957. Epub 2013 May 22.


Chimerism occurs when an organism contains cells derived from more than one distinct zygote. We focus on monochorionic dizygotic twin blood chimerism, and particularly twin-twin transfusion syndrome in such pregnancies. For years, researchers have understood chimerism to be a common phenomenon in cattle. Although, this review will not delve deeply into animal chimerism, an understanding of chimerism in the animal world can provide clues regarding health implications for human chimeras. This report serves two purposes: an update and assessment of the twins we reported previously in 2010 [Assaf et al., 2010] and a review on dizygotic monochorionic chimeric twins. First, our updated assessment of the twins shows no identifiable regression of Müllerian sex derivatives in the female, and normal neurodevelopment was documented in both. Our research has suggested several key points; one that blood chimerism persists from fetal life to at least age two years. Second, chimerism in humans is not as rare as previously thought, although it has been studied only recently. Third, assisted reproductive technologies appear to increase the risk of monochorionic dizygotic twin pregnancies.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Animals
  • Autoimmune Diseases / etiology
  • Chimerism*
  • Chorion
  • Diseases in Twins / etiology
  • Female
  • Fetofetal Transfusion / complications
  • Fetofetal Transfusion / genetics
  • Follow-Up Studies
  • Humans
  • Male
  • Mouth Mucosa
  • Neoplasms / etiology
  • Pregnancy
  • Pregnancy, Twin / genetics*
  • Stem Cells
  • Twins, Dizygotic / genetics*