Format

Send to

Choose Destination
See comment in PubMed Commons below
Am J Med Genet B Neuropsychiatr Genet. 2010 Sep;153B(6):1134-49. doi: 10.1002/ajmg.b.31091.

Identical but not the same: the value of discordant monozygotic twins in genetic research.

Author information

1
Department of Clinical Genetics, VU University Medical Center, de Boelelaan 1117, Amsterdam, the Netherlands. p.zwijnenburg@vumc.nl

Abstract

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.

PMID:
20468073
DOI:
10.1002/ajmg.b.31091
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Wiley
    Loading ...
    Support Center