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Fluorescence in situ hybridization (FISH) is a molecular technique used to detect specific DNA or RNA sequences on chromosomes, aiding in the identification of chromosomal abnormalities and gene localization.
FISH involves fluorescently labeled DNA or RNA probes binding to specific gene sites on chromosomes. This allows for direct visualization of:
Abnormality | Description | Visual Observation |
---|---|---|
Microdeletion | Loss of fluorescence on a chromosome compared to its homolog. | No signal at a specific locus on one chromosome. |
Translocation | Fluorescent signal corresponding to one chromosome appears on another chromosome. | Signal fragments translocated (e.g., chromosome 17 to 19). |
Duplication | Additional fluorescence signals indicating extra copies of a chromosomal segment. | Multiple signals (e.g., trisomy or tetrasomy). |
Each fluorescent color corresponds to a chromosome-specific probe, enabling a detailed karyotype analysis. Arrows in images can point to: