Patsalis P C
Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Genet Couns. 2007;18(1):57-69.
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.
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。