[Phenotypic and genetic analysis of a pedigree with 4p16 microduplication and 8p23 microdeletion].

Objective: To explore the nature and origin of chromosomal copy number variants (CNVs) in a pedigree affected with mental retardation.

Methods: Genomic CNVs of the proband were analyzed by next generation sequencing (NGS). Chromosomal karyotypes of the proband and his relatives were analyzed with high-resolution karyotyping and fluorescence in situ hybridization (FISH).

[MicroRNAs and cancer-associated signal transduction pathways].

Signal transduction pathways play extremely important roles in various processes of cell life including metabolism, growth, proliferation, stress, development and apoptosis. Disruption of these pathways may affect normal cell growth and development, and even gives rise to tumors. MicroRNAs (miRNAs) are a newly discovered class of non-coding small RNAs (approximately 22 nucleotides in length) in eukaryotes that negatively regulate gene expression at the post-transcriptional level.