Developmental Defects in Trisomy 21 and Mouse Models

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 syndrom...

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Main Authors: Jean Maurice Delabar, Revital Aflalo-Rattenbac, Nicole Créau
Format: Article
Language:English
Published: Wiley 2006-01-01
Series:The Scientific World Journal
Online Access:http://dx.doi.org/10.1100/tsw.2006.322
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author Jean Maurice Delabar
Revital Aflalo-Rattenbac
Nicole Créau
author_facet Jean Maurice Delabar
Revital Aflalo-Rattenbac
Nicole Créau
author_sort Jean Maurice Delabar
collection DOAJ
description 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.
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spelling doaj-art-a8c5efdd7f264475acfcacaea2bc4d9f2025-02-03T05:59:14ZengWileyThe Scientific World Journal1537-744X2006-01-0161945196410.1100/tsw.2006.322Developmental Defects in Trisomy 21 and Mouse ModelsJean Maurice Delabar0Revital Aflalo-Rattenbac1Nicole Créau2EA3508, Université Denis Diderot — Paris 7, 2 place Jussieu 75251 Paris Cedex 05, FranceEA3508, Université Denis Diderot — Paris 7, 2 place Jussieu 75251 Paris Cedex 05, FranceEA3508, Université Denis Diderot — Paris 7, 2 place Jussieu 75251 Paris Cedex 05, FranceAneuploidies 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.http://dx.doi.org/10.1100/tsw.2006.322
spellingShingle Jean Maurice Delabar
Revital Aflalo-Rattenbac
Nicole Créau
Developmental Defects in Trisomy 21 and Mouse Models
The Scientific World Journal
title Developmental Defects in Trisomy 21 and Mouse Models
title_full Developmental Defects in Trisomy 21 and Mouse Models
title_fullStr Developmental Defects in Trisomy 21 and Mouse Models
title_full_unstemmed Developmental Defects in Trisomy 21 and Mouse Models
title_short Developmental Defects in Trisomy 21 and Mouse Models
title_sort developmental defects in trisomy 21 and mouse models
url http://dx.doi.org/10.1100/tsw.2006.322
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AT revitalaflalorattenbac developmentaldefectsintrisomy21andmousemodels
AT nicolecreau developmentaldefectsintrisomy21andmousemodels