Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles.

C.E.G. Bruder, A. Piotrowski, A.A.C.J. Gijsbers, R. Anderson, S. Erickson, T. Diaz de Stahl, U. Menzel, J. Sandgren, D. von Tell, A. Poplawski, M. Crowley, C. Crasto, E.C. Partridge, H. Tiwari, D.B. Allison, J. Komorowski, G.J.B van Ommen, D.I. Boomsma, N.L. Pedersen, J.T. den DunnenK. Wirdefeldt, J.P. Dumanski

Research output: Contribution to JournalArticleAcademicpeer-review


The exploration of copy-number variation (CNV), notably of somatic cells, is an understudied aspect of genome biology. Any differences in the genetic makeup between twins derived from the same zygote represent an irrefutable example of somatic mosaicism. We studied 19 pairs of monozygotic twins with either concordant or discordant phenotype by using two platforms for genome-wide CNV analyses and showed that CNVs exist within pairs in both groups. These findings have an impact on our views of genotypic and phenotypic diversity in monozygotic twins and suggest that CNV analysis in phenotypically discordant monozygotic twins may provide a powerful tool for identifying disease-predisposition loci. Our results also imply that caution should be exercised when interpreting disease causality of de novo CNVs found in patients based on analysis of a single tissue in routine disease-related DNA diagnostics. © 2008 The American Society of Human Genetics.
Original languageEnglish
Pages (from-to)763-771
JournalAmerican Journal of Human Genetics
Issue number3
Publication statusPublished - 2008

Cohort Studies

  • Netherlands Twin Register (NTR)


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