A great variety of methods is available for identifying
small rearrangements. Single-copy
probes hybridizing to specific sites on individual
chromosomes can be used to identify
specific locations on a chromosome. Numerous
probes from one chromosome can be applied to
identify a whole chromosome (chromosome
painting). In comparative genomic hybridization,
the genomic DNA of a cell population, for
example tumor cells, is hybridized to normal
metaphase chromosomes. DNA segments that
are overrepresented or underrepresented in the
tumor tissue owing to duplication or deletion
will appear as increased or decreased signals.
The preparation of extended DNA fibers (fiber
FISH) increases the resolution. The following
are selected examples of the use of multiplex
fluorescence in situ hybridization.
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