第一个跳跃样易位的产前病例:解开复杂的染色体重排。

IF 2.4 4区 生物学 Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY
Kevin Cassinari, Anne Claire Brehin, Ferdi Kundul, Mathieu Castelain, Sophie Patrier-Sallebert, Alain Diguet, Eric Verspyck, Claude Houdayer, Géraldine Joly-Hélas, Pascal Chambon
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引用次数: 0

摘要

跳跃易位和跳跃样易位是一种罕见的复杂染色体重排,主要见于血液疾病和实体肿瘤。本研究概述了一种复杂的结构镶嵌重排,涉及单个受体染色体和三个不同的供体染色体,在不同细胞系中观察到不同的镶嵌模式。重排通过核型、FISH和array-CGH证实。这些分析揭示了显著的染色体重复和缺失,这可能有助于观察到的表型异常。通过各种细胞遗传学技术进行表征后,这种重排似乎是产前体质遗传学中首次报道的跳跃样易位。这一发现使得关于这种复杂结构变异的机制和通过当代遗传方法检测它们的假设得以形成。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
First prenatal case of jumping-like translocations: unraveling complex chromosomal rearrangements.

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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来源期刊
Chromosome Research
Chromosome Research 生物-生化与分子生物学
CiteScore
4.70
自引率
3.80%
发文量
31
审稿时长
1 months
期刊介绍: Chromosome Research publishes manuscripts from work based on all organisms and encourages submissions in the following areas including, but not limited, to: · Chromosomes and their linkage to diseases; · Chromosome organization within the nucleus; · Chromatin biology (transcription, non-coding RNA, etc); · Chromosome structure, function and mechanics; · Chromosome and DNA repair; · Epigenetic chromosomal functions (centromeres, telomeres, replication, imprinting, dosage compensation, sex determination, chromosome remodeling); · Architectural/epigenomic organization of the genome; · Functional annotation of the genome; · Functional and comparative genomics in plants and animals; · Karyology studies that help resolve difficult taxonomic problems or that provide clues to fundamental mechanisms of genome and karyotype evolution in plants and animals; · Mitosis and Meiosis; · Cancer cytogenomics.
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