Document Title

A Chromosome 21 Critical Region Does Not Cause Specific Down Syndrome Phenotypes

Department/School

Biology

Abstract

The “Down syndrome critical region” (DSCR) is a chromosome 21 segment purported to contain genes responsible for many features of Down syndrome (DS), including craniofacial dysmorphology. We used chromosome engineering to create mice that were trisomic or monosomic for only the mouse chromosome segment orthologous to the DSCR and assessed dysmorphologies of the craniofacial skeleton that show direct parallels with DS in mice with a larger segmental trisomy. The DSCR genes were not sufficient and were largely not necessary to produce the facial phenotype. These results refute specific predictions of the prevailing hypothesis of gene action in DS.

Document Type

Article

Publication Title

Science

Publication Date

10-22-2004

Volume

306

Issue

5696

Pages

687-690

Digital Object Identifier (DOI)

10.1126/science.1098992

PubMed ID (PMID)

15499018

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