Lehrbuch

Koletzko 2000, S. 28

Pedbase

Studien

%A Olson, L. E. %A Richtsmeier, J. T. %A Leszl, J. %A Reeves, R. H. %T A Chromosome 21 Critical Region Does Not Cause Specific Down Syndrome Phenotypes %0 Journal Article %D 2004 %J Science %P 687-690 %V 306 %N 5696 %U http://www.sciencemag.org/cgi/content/abstract/306/5696/687 %8 October 22, 2004 %X 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.

Links

Down Syndrome WWW Page

Down Syndrome Research Foundation and Resource C.

The National Down Syndrome Society

National Association for Down Syndrome

DS Growth Charts