Down syndrome and the complexity of genome dosage imbalance.

Abstract excerpt

Down syndrome (also known as trisomy 21) is the model human phenotype for all genomic gain dosage imbalances, including microduplications. The functional genomic exploration of the post-sequencing years of chromosome 21, and the generation of numerous cellular and mouse models, have provided an unprecedented opportunity to decipher the molecular consequences of genome dosage imbalance. Studies of Down syndrome...

Topics

• Animals
• Down Syndrome
• Gene Dosage
• Gene Expression Regulation
• Genetic Variation
• Genome
• Humans
• Mice
• Phenotype