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Identical but not the same: The value of discordant monozygotic twins in genetic research
Author(s) -
Zwijnenburg Petra J.G.,
MeijersHeijboer Hanne,
Boomsma Dorret I.
Publication year - 2010
Publication title -
american journal of medical genetics part b: neuropsychiatric genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.393
H-Index - 126
eISSN - 1552-485X
pISSN - 1552-4841
DOI - 10.1002/ajmg.b.31091
Subject(s) - monozygotic twin , genetics , biology , twin study , epigenetics , phenotype , mendelian inheritance , identical twins , omim : online mendelian inheritance in man , disease , gene , medicine , heritability , pathology
Monozygotic (MZ) twins show remarkable resemblance in many aspects of behavior, health, and disease. Until recently, MZ twins were usually called “genetically identical”; however, evidence for genetic and epigenetic differences within rare MZ twin pairs has accumulated. Here, we summarize the literature on MZ twins discordant for Mendelian inherited disorders and chromosomal abnormalities. A systematic literature search for English articles on discordant MZ twin pairs was performed in Web of Science and PubMed. A total number of 2,016 publications were retrieved and reviewed and 439 reports were retained. Discordant MZ twin pairs are informative in respect to variability of phenotypic expression, pathogenetic mechanisms, epigenetics, and post‐zygotic mutagenesis and may serve as a model for research on genetic defects. The analysis of single discordant MZ twin pairs may represent an elegant approach to identify genes in inherited disorders. © 2010 Wiley‐Liss, Inc.

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