Genetic and teratological considerations in the analysis of concordant and discordant abnormalities in twins

Abstract

Results from monozygotic (MZ) and dizygotic (DZ) twin research are often used in an attempt to gain a clearer understanding of the 'nature v. nurture' dilemma. Discordance between MZ twins has been considered to be environmental, and greater concordance in MZ compared with DZ pairs to be genetic. Current genetic and teratological theories considerably complicate the interpretation of concordance and discordance of abnormalities. The high rate of discordant intra-uterine death recently demonstrated in twins may profoundly influence the value of epidemiological studies usually performed in later life. Furthermore, indirect zygosity estimations based on sex ratios in DZ twins may be flawed because it is now recognized that increasing numbers of conditions are genetically heterogeneous. Emphasis is laid on problems of interpretation of discordance and concordance for developmental abnormalities in twins, and some possible mechanisms for their induction are discussed. Basic genetic concepts relevant to the expression of abnormalities in twins are outlined.