Chromosome analysis has rapidly developed in the post-genome era. Novel genomic tools like array-based comparative genomic hybridization (array CGH) allow the mapping of genomic copy number alterations at the sub-microscopic level, directly linking disease phenotypes to gene dosage alterations. These approaches are excellently suited for gene identification studies, for genotype-phenotype mapping as well as for molecular kary-otyping in a routine clinical setting, thereby rapidly bridging the gap between DNA diagnostics and cytogenetic diagnostics. With increased resolution, these technologies not only identify disease-causing alterations but also highlight variation in the normal population.

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