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Volume 6 (2006), Pages 1945-1964
Review Article

Developmental Defects in Trisomy 21 and Mouse Models

EA3508, Université Denis Diderot — Paris 7, 2 place Jussieu 75251 Paris Cedex 05, France

Received 24 June 2006; Revised 22 August 2006; Accepted 24 August 2006

Academic Editor: Yann Hérault

Copyright © 2006 Jean Maurice Delabar et al.


Aneuploidies have diverse phenotypic consequences, ranging from mental retardation and developmental abnormalities to susceptibility to common phenotypes and various neoplasms. This review focuses on the developmental defects of murine models of a prototype human aneuploidy: trisomy 21 (Down syndrome, DS, T21). Murine models are clearly the best tool for dissecting the phenotypic consequences of imbalances that affect single genes or chromosome segments. Embryos can be studied freely in mice, making murine models particularly useful for the characterization of developmental abnormalities. This review describes the main phenotypic alterations occurring during the development of patients with T21 and the developmental abnormalities observed in mouse models, and investigates phenotypes common to both species.