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

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

Ngôn ngữ: eng

Ký hiệu phân loại: 978.7 *Wyoming

Thông tin xuất bản: Netherlands : Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 696459

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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