Detection of chromosomal aberrations as a cause of mental retardation using new molecular cytogenetic methods

In the last decade diagnostics and therapy of serious human genomic diseases were simplified by the establishment of new methods of molecular cytogenetics. Progress in human cytogenetics was triggered especially by FISH technique and its modifications, wh ich allow exact understanding of the role of genetic changes in individuals with genomic disease. Recent development in molecular cytogenetic methods based on the genomic microarray technology (array-CGH) can in many instances reveal results that increase the understanding of the mechanism of chromosome instability. Chromosomal abnormalities are common causes of genomic diseases. They can often result in syndromes that may lead to developmental disabilities, congenital anomalies and mental retardation. In this project we will characterize in detail chromosomal aberrations in patients with unexplained mental retardation and developmental delay. Even though chromosomal aberrations are quite rare, the total number of patients with such rare genetic condition s is significant (2-3% of the overall population). This research allows building of hypotheses to explain genotype-phenotype correlations in the patients using the new improved technologies of molecular cytogenetics.