TAILIEUCHUNG - Chapter 063. Chromosome Disorders (Part 3)

Applications of FISH The majority of FISH applications involve hybridization of one or two probes of interest as an adjunctive procedure to conventional chromosomal banding techniques. In this regard, FISH can be utilized to identify specific chromosomes, characterize de novo duplications or deletions, and clarify subtle chromosomal rearrangements. Its greatest utilization, however, is in the detection of microdeletions (see below). Though conventional cytogenetic studies can detect some microdeletions, initial detection and/or confirmation with FISH is essential. In fact, since appropriate FISH probes have become available, detection of microdeletion syndromes has increased significantly. In addition to metaphase FISH, cells can be analyzed. | Chapter 063. Chromosome Disorders Part 3 Applications of FISH The majority of FISH applications involve hybridization of one or two probes of interest as an adjunctive procedure to conventional chromosomal banding techniques. In this regard FISH can be utilized to identify specific chromosomes characterize de novo duplications or deletions and clarify subtle chromosomal rearrangements. Its greatest utilization however is in the detection of microdeletions see below . Though conventional cytogenetic studies can detect some microdeletions initial detection and or confirmation with FISH is essential. In fact since appropriate FISH probes have become available detection of microdeletion syndromes has increased significantly. In addition to metaphase FISH cells can be analyzed at a variety of stages. Interphase analysis for example can be used to make a rapid diagnosis in instances when metaphase chromosome preparations are not yet available . amniotic fluid interphase analysis . Interphase analysis also increases the number of cells available for examination allows for investigation of nuclear organization and provides results when cells do not progress to metaphase. One specialized type of interphase analysis involves the application of FISH to paraffin-embedded sections thereby preserving the architecture of the tissue. The use of interphase FISH has increased recently especially for analyses of amniocentesis samples. These studies are performed on uncultured amniotic fluid typically using DNA probes specific for the chromosomes most commonly identified in trisomies chromosomes 13 18 21 and the X and Y . These studies can be performed rapidly 24-72 h and will ascertain about 60 of the abnormalities detected prenatally. Another area in which interphase analysis is routinely utilized is cancer cytogenetics Chap. 79 . Many site-specific translocations are associated with specific types of malignancies. For example there are probes available for both the Abelson Abl .

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