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Related Experiment Videos

M-FISH applications in clinical genetics.

Z Cetin1, S Berker Karaüzüm, S Yakut

  • 1Akdeniz University, Faculty of Medicine, Department of Medical Biology and Genetics, Antalya, Turkey.

Genetic Counseling (Geneva, Switzerland)
|November 2, 2005
PubMed
Summary
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The clinical spectrum of a rare chromosomal abnormality: Isochromosome 18p.

Genetic counseling (Geneva, Switzerland)·2018

Multicolor Fluorescence in Situ Hybridization (M-FISH) accurately characterizes complex marker and derivative chromosomes, improving genetic counseling and prenatal diagnosis. This advanced technique precisely identifies chromosomal origins and their clinical implications.

Area of Science:

  • Genetics
  • Molecular Cytogenetics

Background:

  • Characterizing de novo marker and derivative chromosomes was challenging for genetic counseling and prenatal diagnosis using conventional methods.
  • Multicolor Fluorescence in Situ Hybridization (M-FISH) offers a novel solution by painting all human chromosomes in distinct colors for single-hybridization analysis.

Observation:

  • M-FISH was applied to characterize 3 marker and 3 derivative chromosomes.
  • Marker chromosomes were identified as originating from chromosome 15 in two postnatal and one prenatal case.
  • Derivative chromosomes included specific translocations: der(21)t(1;21), der(8)t(8;9), and der(18)t(18;20).

Findings:

  • M-FISH precisely determined the origin of marker and derivative chromosomes.
  • One marker chromosome case presented with inv dup(15) syndrome, another with infertility, and a prenatal case was identified via amniocentesis.

Related Experiment Videos

  • Derivative chromosomes resulted in chromosomal imbalances, such as trisomy 9/monosomy 8 and trisomy 20/monosomy 18.

    • Implications:

    • M-FISH significantly enhances the ability to diagnose and counsel patients with complex chromosomal abnormalities.
    • Accurate characterization of derivative chromosomes aids in understanding associated clinical findings and genetic risks.
    • This technique improves diagnostic accuracy in prenatal and postnatal genetic evaluations.