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

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