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罗伯逊易位和一条额外的微小染色体:通过原位杂交鉴定的独立起源

Robertsonian translocation and an extra microchromosome: independent origin identified by in situ hybridization.

作者信息

Heppell-Parton A C, Waters J J

机构信息

Department of Cancer Studies, University of Birmingham, UK.

出版信息

Clin Genet. 1991 Feb;39(2):93-6. doi: 10.1111/j.1399-0004.1991.tb02993.x.

Abstract

Robertsonian translocation may result in either a monocentric or a dicentric product involving the long arms of the participating chromosomes. In the former case a microchromosome involving the short arms of both acrocentrics would be expected to arise, but in practice is rarely observed. Where such small bisatellited markers are seen in association with Robertsonian translocations, they are assumed to represent such reciprocal products. We present a case, involving a t(14q21q) and a DA/DAPI positive microchromosome, where using in situ hybridization we show that this assumption is incorrect and that the microchromosome has arisen independently.

摘要

罗伯逊易位可能会产生涉及参与易位的染色体长臂的单着丝粒或双着丝粒产物。在前一种情况下,预计会出现一个涉及两个近端着丝粒短臂的微染色体,但实际上很少观察到。当在罗伯逊易位中发现这种小的双卫星标记时,它们被认为代表这种相互产物。我们报告一例,涉及一个t(14q21q)和一个DA/DAPI阳性微染色体,通过原位杂交我们发现这一假设是错误的,该微染色体是独立产生的。

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