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

Carl E.G. Bruder, Arkadiusz Piotrowski, Antoinet A.C.J. Gijsbers, Robin Andersson, Stephen Erickson, Teresita Diaz de Ståhl, Uwe Menzel, Johanna Sandgren, Desiree von Tell, Andrzej Poplawski, Michael Crowley, Chiquito Crasto, E. Christopher Partridge, Hemant Tiwari, David B. Allison, Jan Komorowski, Gert Jan B. van Ommen, Dorret I. Boomsma, Nancy L. Pedersen, Johan T. den DunnenKarin Wirdefeldt, Jan P. Dumanski

Research output: Contribution to journalArticlepeer-review

402 Scopus citations


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.

Original languageEnglish
Pages (from-to)763-771
Number of pages9
JournalAmerican Journal of Human Genetics
Issue number3
StatePublished - Mar 3 2008


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