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Related Concept Videos

FISH - Fluorescent In-situ Hybridization02:07

FISH - Fluorescent In-situ Hybridization

Fluorescence in situ hybridization, or FISH, was developed in the early 1980s and has quickly become one of the most widely used techniques in cytogenetics. Labeled probes are used to bind complementary DNA or RNA sequences on a chromosome or in a region within a cell. Earlier, the probes could only be obtained by cloning or reverse transcription of a DNA template. Currently, the probe oligonucleotides can be synthesized synthetically. Additionally, with the advancement of optical techniques,...
In-situ Hybridization02:31

In-situ Hybridization

In situ hybridization (ISH) is a technique used to detect and localize specific DNA or RNA molecules in cells, tissue, or tissue sections using a labeled probe. The technique was first used in 1969 for the investigation of nucleic acids. It is currently an essential tool in scientific research and clinical settings, especially for diagnostic purposes.
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A probe is a complementary strand of DNA or RNA that binds to corresponding nucleotide sequences in a cell. Many...
Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...

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Chromosome Replicating Timing Combined with Fluorescent In situ Hybridization
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The Characterization of Chromosomal Abnormalities Using Fluorescence In SituHybridization Procedures.

H M Kempski1

  • 1Department of Molecular Haematology, Institute of Child Health, LRF Centre for Childhood Leukaemia, London, UK.

Methods in Molecular Medicine
|March 8, 2011
PubMed
Summary

Karyotypic analysis reveals crucial cytogenetic changes in diseases like human leukemias. Specific chromosome abnormalities identified through karyotyping aid in disease classification and understanding clinical features.

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Last Updated: Jun 3, 2026

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Chromosomics: Detection of Numerical and Structural Alterations in All 24 Human Chromosomes Simultaneously Using a Novel OctoChrome FISH Assay
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Area of Science:

  • Cytogenetics
  • Human Pathology
  • Molecular Biology

Background:

  • Cytogenetic changes are fundamental to understanding disease development.
  • Karyotypic analysis is a key tool for investigating genetic alterations in various conditions.
  • Human malignancies, particularly leukemias, often exhibit aneuploidy and structural chromosome rearrangements.

Purpose of the Study:

  • To highlight the importance of karyotypic analysis in disease pathogenesis.
  • To emphasize the role of specific chromosome abnormalities in classifying human leukemias.
  • To correlate cytogenetic findings with clinical features in hematological malignancies.

Main Methods:

  • Karyotypic analysis
  • Cytogenetic examination of human malignancies
  • Comparative genomic hybridization (CGH) for detecting aneuploidy and rearrangements

Main Results:

  • Identified a wide spectrum of structural rearrangements in leukemic karyotypes.
  • Demonstrated highly specific chromosome abnormalities associated with different types of leukemia.
  • Established correlations between specific cytogenetic findings and distinct clinical presentations.

Conclusions:

  • Karyotypic analysis is indispensable for understanding leukemia pathogenesis.
  • Specific chromosomal abnormalities serve as critical biomarkers for leukemia classification.
  • Cytogenetic data provides valuable insights into the clinical behavior of leukemias.