Complex genomic rearrangements of the Y chromosome in a premature infant.

IF 1.3 4区生物学 Q4 GENETICS & HEREDITY Molecular Cytogenetics Pub Date : 2024-08-26 DOI:10.1186/s13039-024-00689-x

Stephanie A Balow, Alyxis G Coyan, Nicki Smith, Bianca E Russell, Danielle Monteil, Robert J Hopkin, Teresa A Smolarek

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Abstract

Background: Chromoanagenesis is an umbrella term used to describe catastrophic "all at once" cellular events leading to the chaotic reconstruction of chromosomes. It is characterized by numerous rearrangements involving a small number of chromosomes/loci, copy number gains in combination with deletions, reconstruction of chromosomal fragments with improper order/orientation, and preserved heterozygosity in copy number neutral regions. Chromoanagesis is frequently described in association with cancer; however, it has also been described in the germline. The clinical features associated with constitutional chromoanagenesis are typically due to copy number changes and/or disruption of genes or regulatory regions.

Case presentation: We present an 8-year-old male patient with complex rearrangements of the Y chromosome including a ring Y chromosome, a derivative Y;21 chromosome, and a complex rearranged Y chromosome. These chromosomes were characterized by G-banded chromosome analysis, SNP microarray, interphase FISH, and metaphase FISH. The mechanism(s) by which these rearrangements occurred is unclear; however, it is evocative of chromoanagenesis.

Conclusion: This case is a novel example of suspected germline chromoanagenesis leading to large copy number changes that are well-tolerated, possibly because only the sex chromosomes are affected.

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早产儿 Y 染色体的复杂基因组重排。

背景：染色体基因突变是一个总称，用来描述 "一下子 "导致染色体混乱重建的灾难性细胞事件。它的特点是涉及少量染色体/基因组的大量重排、拷贝数增殖与缺失相结合、染色体片段的重建顺序/方位不当以及在拷贝数中性区域保留杂合性。染色体异常通常与癌症有关，但也有发生在生殖系的情况。与染色体显性遗传相关的临床特征通常是由于拷贝数变化和/或基因或调控区的破坏：我们接诊了一名 8 岁的男性患者，他的 Y 染色体存在复杂的重排，包括一条环状 Y 染色体、一条衍生的 Y;21 染色体和一条复杂重排的 Y 染色体。通过 G 带染色体分析、SNP 微阵列、间期 FISH 和分裂期 FISH 对这些染色体进行了鉴定。这些重排发生的机制尚不清楚，但可以推断是染色体发生了变异：本病例是疑似生殖系染色体致病的新病例，可能因为只有性染色体受到影响，所以导致了拷贝数的巨大变化，但患者的耐受性良好。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular Cytogenetics GENETICS & HEREDITY-

CiteScore

2.60

自引率

7.70%

发文量

审稿时长

>12 weeks

期刊介绍： Molecular Cytogenetics encompasses all aspects of chromosome biology and the application of molecular cytogenetic techniques in all areas of biology and medicine, including structural and functional organization of the chromosome and nucleus, genome variation, expression and evolution, chromosome abnormalities and genomic variations in medical genetics and tumor genetics. Molecular Cytogenetics primarily defines a large set of the techniques that operate either with the entire genome or with specific targeted DNA sequences. Topical areas include, but are not limited to: -Structural and functional organization of chromosome and nucleus- Genome variation, expression and evolution- Animal and plant molecular cytogenetics and genomics- Chromosome abnormalities and genomic variations in clinical genetics- Applications in preimplantation, pre- and post-natal diagnosis- Applications in the central nervous system, cancer and haematology research- Previously unreported applications of molecular cytogenetic techniques- Development of new techniques or significant enhancements to established techniques. This journal is a source for numerous scientists all over the world, who wish to improve or introduce molecular cytogenetic techniques into their practice.