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一名发育正常但智力发育迟缓的女孩,其额外的“G”样染色体源自母亲的13;15易位。

A supernumerary "G" like chromosome originating from a maternal 13;15 translocation in a nondysmorphic, retarded girl.

作者信息

Wang H, Hunter A G

出版信息

Clin Genet. 1979 Mar;15(3):273-7. doi: 10.1111/j.1399-0004.1979.tb00979.x.

Abstract

This paper describes a retarded girl who had a severe seizure disorder and a few minor anomalies, and who was found to have a "G-sized" supernumerary chromosome in all her cells which were examined. Studies of the patient's and her parents' chromosomes by a variety of techniques suggest that the supernumerary chromosome arose following a prezygotic maternal 13;15 translocation.

摘要

本文描述了一名患有严重癫痫症和一些轻微异常的智力发育迟缓女孩,在对其所有检查的细胞中发现有一条“G组”额外染色体。通过多种技术对患者及其父母的染色体进行研究表明,这条额外染色体是在合子形成前母体发生13;15易位后出现的。

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