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臂间倒位:综述

Paracentric inversions: a review.

作者信息

Madan K

机构信息

Cytogenetics Laboratory, Academisch Ziekenhuis Vrije Universiteit, Amsterdam, The Netherlands.

出版信息

Hum Genet. 1995 Nov;96(5):503-15. doi: 10.1007/BF00197403.

Abstract

This review of paracentric inversions in man includes what we know of the behaviour and reproductive consequences of paracentric inversions from other species. Observations of naturally occurring inversions in several species of plants and animals and results of experiments with mutagenically induced inversions in the mouse are discussed. From a review of 184 cases, it is concluded that most of the paracentric inversions in man are harmless and that the risk of heterozygotes having a child with an unbalanced karyotype is low. However, in some cases, it is difficult, if not impossible, to distinguish between a paracentric inversion and a paracentric insertion, the risk in the latter case being about 15%. Caution is also necessary in interpreting the results of prenatal diagnosis for heterozygotes of paracentric inversions, because of the possibility of a variety of unpredictable unbalanced chromosome products.

摘要

这篇关于人类臂内倒位的综述涵盖了我们从其他物种中了解到的臂内倒位的行为及生殖后果。文中讨论了在几种植物和动物中自然发生的倒位的观察结果,以及在小鼠中通过诱变诱导倒位的实验结果。通过对184个病例的综述得出结论,人类中的大多数臂内倒位是无害的,杂合子生育核型不平衡孩子的风险较低。然而,在某些情况下,区分臂内倒位和臂内插入即便不是不可能,也是困难的,后一种情况的风险约为15%。由于可能出现各种不可预测的染色体不平衡产物,在解释臂内倒位杂合子的产前诊断结果时也需要谨慎。

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