Identificació de regions cromosòmiques responsables de malformacions congènites mitjançant tècniques de citogenètica molecular

Congenital disorders are the result of the acumulation of múltiple genetic changes in a lot of cases. The loss or gain of chromosomal segments of similar size could have different consequenes depending on the number and function of the genes located in these fragments. At the moment, we only know a few specific chromosome regions whose alteration, caused by delection or duplication, is correlate with a concrete clinic syndrome. The aim of this project is to determine cryptic chromosomal regions associated to specific congenital disorders using the molecular cytogenetic techniques of hig-resolution compartive genomic hybridization (HR-CGH) and multicolor fluorescence "in situ" hybribization (M-FISH). Furthermore, we want to determinate the limitations of these techniques and analyse, in each case, the utility of others news molecular methodologies like QF-PCR. Our findings will allow the making of commercial chromosome loci-specific-probes and its will also help the work of the molecular biologist in the gene mapage that are involved in the origin of these pathologies