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复杂染色体重排

Complex chromosomal rearrangements.

作者信息

Patsalis P C

机构信息

Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

出版信息

Genet Couns. 2007;18(1):57-69.

PMID:17515301
Abstract

Complex Chromosomal Rearrangements (CCRs) are constitutional structural rearrangements involving three or more chromosomes or having more than two breakpoints. CCRs preferentially occur during spermatogenesis and are transmitted in families through oogenesis. Recent investigation showed that CCRs are more complex and more common than initially appreciated. Here 1 present an overview of CCRs, including the important impact of CCRs in fertility, the mechanism of their development, the various meiotic errors that can occur and their consequences. The review also discusses the differential transmission of CCRs in males and females, the incidence of pregnancy outcomes of CCR carriers, genetic counseling and prenatal diagnosis.

摘要

复杂染色体重排(CCRs)是涉及三条或更多条染色体或具有两个以上断点的结构重排。CCRs优先发生在精子发生过程中,并通过卵子发生在家族中传递。最近的研究表明,CCRs比最初认为的更为复杂和常见。在此,我概述了CCRs,包括CCRs对生育力的重要影响、其发生机制、可能出现的各种减数分裂错误及其后果。该综述还讨论了CCRs在男性和女性中的差异传递、CCR携带者的妊娠结局发生率、遗传咨询和产前诊断。

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引用本文的文献

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Genetic and functional characterization of inherited complex chromosomal rearrangements in a family with multisystem anomalies.一个患有多系统异常的家族中遗传性复杂染色体重排的遗传学和功能特征分析
Genet Med Open. 2025 Mar 11;3:103423. doi: 10.1016/j.gimo.2025.103423. eCollection 2025.
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Mate-pair sequencing assisted prenatal counseling for a rare complex chromosomal rearrangement carrier.
配对末端测序辅助罕见复杂染色体重排携带者的产前咨询
Hum Mol Genet. 2025 May 6;34(10):864-869. doi: 10.1093/hmg/ddaf012.
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Successful pregnancy in a complex chromosomal rearrangement carrier using preimplantation genetic testing for structural rearrangements: A case report.通过植入前基因检测进行结构重排分析,复杂染色体重排携带者成功妊娠:一例报告
Medicine (Baltimore). 2025 Jan 31;104(5):e41327. doi: 10.1097/MD.0000000000041327.
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Successful pregnancy after preimplantation genetic testing for structural rearrangements in a couple with complex chromosome rearrangement and recurrent in vitro fertilization failures: a case report.一对患有复杂染色体重排且反复体外受精失败的夫妇,经植入前基因检测结构重排后成功妊娠:一例报告。
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