Transcriptome analysis of amniocytes identifies hub genes associated with developmental dysplasia in Down syndrome

This transcriptomic study compared gene expression profiles between Down syndrome-derived and normal amniocytes, identifying 1794 upregulated and 1411 downregulated genes involved in cell adhesion, inflammation, and proliferation. Network analysis revealed key chromosome 21 genes participating in pathways related to extracellular matrix remodeling, inflammation response, chromatin remodeling, and synaptic function that may contribute to developmental abnormalities in trisomy 21.