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Other than maintaining genome stability via DNA repair, homologous recombination plays an important role in diversifying the genome. In fact, the recombination of sequences forms the molecular basis of genomic evolution. Random and non-random permutations of genomic sequences create a library of new amalgamated sequences. These newly formed genomes can determine the fitness and survival of cells. In bacteria, homologous and non-homologous types of recombination lead to the evolution of new...
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Uncovering Rare Structural Chromosomal Rearrangements: Insights from Molecular Cytogenetics.

Márta Czakó1, András Szabó1, Ágnes Till1

  • 1Department of Medical Genetics, Medical School, University of Pécs, 7624 Pécs, Hungary.

International Journal of Molecular Sciences
|September 27, 2025
PubMed
Summary

Complex chromosomal rearrangements (CCRs) are rare genetic abnormalities. Advanced molecular cytogenetics revealed unexpected complexity in four male patients, aiding genetic counseling.

Keywords:
chromoanasynthesiscomplex chromosomal rearrangementexceptional CCRfour-way CCRinv dup del 18qmolecular cytogenetics

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Area of Science:

  • Genetics
  • Genomics
  • Cytogenetics

Background:

  • Complex chromosomal rearrangements (CCRs) are rare structural abnormalities involving multiple breakpoints and chromosomes.
  • CCRs are often linked to abnormal phenotypes such as developmental delay, congenital anomalies, and infertility.

Purpose of the Study:

  • To report four male patients with de novo rare structural chromosomal rearrangements.
  • To detail the genotype-phenotype correlations using advanced molecular cytogenetic techniques.

Main Methods:

  • Giemsa-Trypsin (GTG) banding
  • Fluorescence in situ hybridization (FISH)
  • High-resolution microarray techniques (SNP array and array comparative genomic hybridization [CGH])

Main Results:

  • Four distinct cases were identified: two exceptional CCRs, one inversion duplication deletion of chromosome 18q (inv dup del 18q), and a cluster rearrangement of chromosome 4.
  • Detailed genotype data revealed unsuspected genomic complexity in all cases.

Conclusions:

  • Molecular cytogenetic methods are crucial for detecting complex genomic alterations, even with initial abnormal karyotypes.
  • Accurate identification of CCRs and their complexity is essential for precise genetic counseling.