自然流产中的跳跃易位。

B Levy, T M Dunn, K Hirschhorn, N Kardon
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引用次数: 15

摘要

染色体易位涉及一个供体染色体和多个受体染色体被称为跳跃易位(JTs)。获得性JTs常见于癌症患者,主要涉及1号染色体。JTs的结构形式主要涉及顶中心染色体及其卫星,并在临床异常患者中有报道。由这些事件引起的可识别的表型包括唐氏综合症、普瑞德-威利综合症和迪乔治综合症。JTs在自然流产中的存在以前没有被描述过。所有JTs的断点都发生在富含重复DNA的区域(端粒、着丝粒和核仁组织区)。我们报告两种不同的不稳定染色体重排的样本来自自然流产。第一个病例涉及15号染色体捐赠者。受体染色体分别为1、9、15和21,断点分别位于异染色质区或着丝粒。FISH研究证实跳跃15重排的断点不涉及Prader-Willi区,而是起源于着丝粒或近端短臂。第二个不稳定的病例被观察到,重排是由假定的从头8;21易位引起的。观察到3株JT细胞株。它们包括一条缺失的8p染色体,一条双中心的821易位和一条8q同工染色体。不稳定区出现在8号染色体的中心点周围区和21号染色体的卫星区。这两件事都是从头开始的。JT的不稳定性导致染色体失衡,这很可能是导致胎儿流产的原因。似乎JT事件可能通过不分离和染色体重排导致染色体失衡,因此,可能是胎儿丢失的一个未被认识的原因。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Jumping translocations in spontaneous abortions.

Chromosome translocations involving one donor chromosome and multiple recipient chromosomes have been referred to as jumping translocations (JTs). Acquired JTs are commonly observed in cancer patients, mainly involving chromosome 1. Constitutional forms of JTs mostly involve the acrocentric chromosomes and their satellites and have been reported in patients with clinical abnormalities. Recognizable phenotypes resulting from these events have included Down, Prader-Willi, and DiGeorge syndromes. The presence of JTs in spontaneous abortions has not been previously described. The breakpoints of all JTs occur in areas rich in repetitive DNA (telomeric, centromeric, and nucleolus organizing regions). We report two different unstable chromosome rearrangements in samples derived from spontaneous abortions. The first case involved a chromosome 15 donor. The recipient chromosomes were 1, 9, 15, and 21, and the respective breakpoints were in either the heterochromatic regions or the centromeres. FISH studies confirmed that the breakpoints of the jumping 15 rearrangement did not involve the Prader-Willi region but originated at the centromere or in the proximal short arm. A second case of instability was observed with a rearrangement resulting from a presumed de novo 8;21 translocation. Three JT cell lines were observed. They consisted of a deleted 8p chromosome, a dicentric 8;21 translocation, and an 8q isochromosome. The instability regions appeared to be at the pericentromeric region of chromosome 8 and the satellite region of chromosome 21. Both cases proved to be de novo events. The unstable nature of the JT resulting in chromosomal imbalance most likely contributed to the fetal loss. It appears that JT events may predispose to chromosomal imbalance via nondisjunction and chromosomal rearrangement and, therefore, may be an unrecognized cause of fetal loss.

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