Genomic imbalances consequences and formation mechanisms investigation in patients with congenital anomalies and intellectual disability

Abstract

A great challenge for cytogeneticists is to understand the genetic basis of the phenotypic variations and its implication for human diseases. Chromosomal rearrangements are an efficient tool for the investigation of the consequences of deletion, duplication or disruption of genes. The Postdoctoral student will mainly participate in the subproject 3 as follows. In patients with congenital anomalies and intellectual disability, cytogenomic imbalances and their breakpoints will be investigated, and correlated to phenotype. The results obtained with these subprojects will allow a better comprehension of the etiology of clinical conditions as well as the role of gene variations and a better understanding of the molecular mechanisms for the formation of cytogenomic rearrangements. (AU)