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产前检测到的一种复杂染色体重排,并通过荧光原位杂交进行研究。

A complex chromosomal rearrangement detected prenatally and studied by fluorescence in situ hybridization.

作者信息

Batista D A, Tuck-Muller C M, Martinez J E, Kearns W G, Pearson P L, Stetten G

机构信息

Department of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287-2501.

出版信息

Hum Genet. 1993 Sep;92(2):117-21. doi: 10.1007/BF00219677.

Abstract

We report of case of a complex chromosomal rearrangement detected prenatally and studied with traditional banding methods and fluorescence in situ hybridization. The combination of these techniques showed that four chromosomes were involved in the translocation. Nine breakpoints were proposed to explain these results. Some of the findings could only be detected with fluorescence in situ hybridization, demonstrating the usefulness of this technique in characterizing chromosomal abnormalities that would otherwise be difficult to interpret correctly with classical cytogenetics alone.

摘要

我们报告了一例产前检测到的复杂染色体重排病例,并使用传统显带方法和荧光原位杂交技术进行了研究。这些技术的结合表明,四条染色体参与了易位。提出了九个断点来解释这些结果。一些发现只能通过荧光原位杂交检测到,这证明了该技术在表征染色体异常方面的有用性,否则仅靠经典细胞遗传学很难正确解释这些异常。

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