ArticleChromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology2025
First prenatal case of jumping-like translocations: unraveling complex chromosomal rearrangements.
Article in Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
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.
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