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DNA-based Fish Species Identification Protocol
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Published on: April 28, 2010

Multicolor FISH methods in current clinical diagnostics.

Thomas Liehr1, Anja Weise, Ahmed B Hamid

  • 1Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, Jena D-07743, Germany. i8lith@mti.uni-jena.de

Expert Review of Molecular Diagnostics
|April 11, 2013
PubMed
Summary
This summary is machine-generated.

Multicolor FISH (mFISH) assays are crucial for detailed chromosome analysis, especially for characterizing derivative chromosomes and verifying array CGH findings. This technique is essential for diagnosing genetic disorders and infertility by resolving complex chromosomal rearrangements.

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Area of Science:

  • Cytogenetics
  • Molecular Genetics
  • Clinical Genetics

Background:

  • Multicolor FISH (mFISH) has been vital for precise derivative chromosome description since 1996.
  • It complements techniques like multiplex-FISH and spectral karyotyping for human chromosome analysis.
  • Various mFISH approaches have been developed for chromosomal differentiation.

Purpose of the Study:

  • To review available mFISH methods and their applications in clinical genetics.
  • To highlight mFISH's role in characterizing marker/derivative chromosomes.
  • To discuss mFISH's utility in verifying and delineating array CGH aberrations.

Main Methods:

  • Review of existing multicolor FISH (mFISH) techniques.
  • Analysis of mFISH applications in characterizing chromosomal abnormalities.
  • Comparison of mFISH with array-based comparative genomic hybridization (aCGH).

Main Results:

  • mFISH is indispensable for detailed characterization of derivative chromosomes.
  • It is used to verify and delineate aberrations detected by aCGH.
  • mFISH is crucial for resolving balanced rearrangements and differentiating imbalanced situations like small supernumerary marker chromosomes.

Conclusions:

  • mFISH remains a key technique in pre- and post-natal clinical genetics.
  • It provides essential resolution for chromosomal rearrangements missed by other methods.
  • mFISH is vital for accurate genetic diagnostics, particularly in infertility and complex cases.