MOLECULAR CYTOGENETIC ANALYSIS OF A FAMILIAL PERICENTRIC-INVERSION OFCHROMOSOME-12

We describe the application of multi-color fluorescence in situ hybrid ization (FISH) in the characterization of a familial pericentric inver sion. Using chromosome 12 short- and long-arm specific DNA probes, fas t and reliable discrimination between normal and inversion chromosome 12 or recombinant inversion chromosome 12 was possible. FISH thus prov ides a reliable means for prenatal detection of balanced or unbalanced chromosome 12 rearrangements in this family. This approach is possibl e for identification of similar chromosome rearrangements provided tha t probes for the putatively involved chromosome region are available.