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Project: Array-comparative genomic hybridization (arrayCGH) study to detect submicrosopic genomic aberration in patients with unexplained mental retardation

01-OCT-05 – 30-SEP-08

The finding of a chromosomal aberration in a patient with a well defined phenotype constitutes a unique opportunity to identify the gene causing the disorder. We therefore propose to screen for microdeletions and/or breakpoint mapping of translocations in such patients. This will be starting point of positional cloning efforts towards the isolation of the gene responsible for the respective condition.