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<p>Jumping translocations and jumping-like translocations constitute a rare category of complex chromosomal rearrangements, which are primarily observed in hematologic disorders and solid tumors. This study outlines a complex structural mosaic rearrangement involving a single recipient chromosome and three distinct donor chromosomes, with varying patterns of mosaicism observed across different cell lines. The rearrangement was confirmed by karyotyping, FISH, and array-CGH. These analyses revealed significant chromosomal duplications and deletions, which may contribute to the observed phenotypic abnormalities. Following characterization via various cytogenetic techniques, this rearrangement appears to be the first reported instance of a jumping-like translocation in prenatal constitutional genetics. This finding enables the formulation of hypotheses regarding the mechanisms underlying such intricate structural variants and their detection via contemporary genetic methods.</p>

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First prenatal case of jumping-like translocations: unraveling complex chromosomal rearrangements

  • 期刊论文

  • 发表日期：

    2025年3月12日

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  • Kevin Cassinari,
  • Anne Claire Brehin,
  • Ferdi Kundul,
  • Mathieu Castelain,
  • Sophie Patrier-Sallebert,
  • Alain Diguet,
  • Eric Verspyck,
  • Claude Houdayer,
  • Géraldine Joly-Hélas,
  • Pascal Chambon

摘要

Jumping translocations and jumping-like translocations constitute a rare category of complex chromosomal rearrangements, which are primarily observed in hematologic disorders and solid tumors. This study outlines a complex structural mosaic rearrangement involving a single recipient chromosome and three distinct donor chromosomes, with varying patterns of mosaicism observed across different cell lines. The rearrangement was confirmed by karyotyping, FISH, and array-CGH. These analyses revealed significant chromosomal duplications and deletions, which may contribute to the observed phenotypic abnormalities. Following characterization via various cytogenetic techniques, this rearrangement appears to be the first reported instance of a jumping-like translocation in prenatal constitutional genetics. This finding enables the formulation of hypotheses regarding the mechanisms underlying such intricate structural variants and their detection via contemporary genetic methods.