Confirmation of isochromosome 18p using whole chromosome arm-specific fluorescence in situ hybridization.
Confirmation of isochromosome 18p using whole chromosome arm-specific fluorescence in situ hybridization.
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使用全染色体臂特异性荧光原位杂交确认等染色体 18p。
DOI：
10.1159/000133547
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发表时间：
1993
期刊：
影响因子：
--
通讯作者：
Overhauser,J
中科院分区：
文献类型：
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作者：
Mewar,R;Harrison,W;Overhauser,J
荧光原位杂交（FISH）使用池的DNA克隆已被映射到染色体18的短臂描述。这种手臂特异性的绘画技术被用来分析两名患者的染色体，他们显示出不同的临床图片。1例患者的临床特征与18 p四体性一致，另1例患者的一些临床特征与18 p三体性相关。这两个病人的初始核型显示存在一个小的中部着丝粒标记染色体，被认为类似于iso（18 p）。这解释的核型证实了这两种情况下使用一个特定的染色体臂画策略。虽然全染色体涂料可以确定标记的起源或检测易位，臂特定的图书馆将允许详细分析染色体重排时，可能需要更精确的信息。
Fluorescent in situ hybridization (FISH) using a pool of DNA clones that have been mapped to the short arm of chromosome 18 is described. This arm-specific painting technique was used to analyze the chromosomes of two patients who displayed different clinical pictures. One patient had clinical features consistent with tetrasomy 18p, and the other patient had some of the clinical features associated with tri-somy 18. The initial karyotype of both patients showed the presence of a small metacentric marker chromosome, thought to resemble an iso(18p). This interpretation of the karyotype was confirmed for both cases using a specific chromosome arm-painting strategy. While whole-chromosome paints may identify the origin of markers or detect translocations, arm-specific libraries will permit detailed analysis of chromosomal rearrangements when more precise information may be needed.