Understanding the basis for Down syndrome phenotypes.
Down syndrome is a collection of features that are caused by trisomy for human Chromosome 21. While elevated transcript levels of the more than 350 genes on the chromosome are primarily responsible, it is likely that multiple genetic mechanisms underlie the numerous ways in which development and function diverge in individuals with trisomy 21 compared to euploid individuals. We consider genotype-phenotype interactions with the goal of producing working concepts that will be useful for approaches to ameliorate the effects of trisomy.
Roper
Randall J
RJ
Department of Physiology at Johns Hopkins University School of Medicine, and at McKusick-Nathans Institute for Genetic Medicine, Baltimore, Maryland, United States of America.
Reeves
Roger H
RH
D000483:Alleles; D000818:Animals; D002891:Chromosomes, Human, Pair 21; D004303:Dosage Compensation, Genetic; D004314:Down Syndrome / Q000235:genetics* / Q000378:metabolism; D005786:Gene Expression Regulation; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D051379:Mice; D008954:Models, Biological; D008957:Models, Genetic; D010641:Phenotype; D014314:Trisomy