Chromosomal analysis is traditionally performed by karyotyping on metaphase spreads, or by fluorescent in situ hybridization (FISH) on interphase cells or metaphase spreads. Flow cytometry was introduced as a new method to analyze chromosomes number (ploidy) and structure (telomere length) in the 1970s with data interpretation largely based on fluorescence intensity. This technology has had little uptake for human cytogenetic applications primarily due to analytical challenges. The introduction of imaging flow cytometry, with the addition of digital images to standard multi-parametric flow cytometry quantitative tools, has added a new dimension. The ability to visualize the chromosomes and FISH signals overcomes the inherent difficulties when the data is restricted to fluorescence intensity. This field is now moving forward with methods being developed to assess chromosome number and structure in whole cells (normal and malignant) in suspension. A recent advance has been the inclusion of immunophenotyping such that antigen expression can be used to identify specific cells of interest for specific chromosomes and their abnormalities. This capability has been illustrated in blood cancers, such as chronic lymphocytic leukemia and plasma cell myeloma. The high sensitivity and specificity achievable highlights the potential imaging flow cytometry has for cytogenomic applications (i.e., diagnosis and disease monitoring). This review introduces and describes the development, current status, and applications of imaging flow cytometry for chromosomal analysis of human chromosomes.

中文翻译：

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通过成像流式细胞术分析人类染色体

染色体分析传统上通过对中期扩散进行核型分析，或通过对间期细胞或中期扩散进行荧光原位杂交 (FISH) 进行。流式细胞术在 1970 年代被引入作为分析染色体数量（倍性）和结构（端粒长度）的新方法，其数据解释主要基于荧光强度。主要由于分析方面的挑战，这项技术很少被人类细胞遗传学应用所采用。成像流式细胞术的引入，以及在标准多参数流式细胞术定量工具中添加数字图像，增加了一个新的维度。当数据仅限于荧光强度时，显示染色体和 FISH 信号的能力克服了固有的困难。这个领域现在正在向前发展，正在开发评估悬浮全细胞（正常和恶性）染色体数量和结构的方法。最近的一项进展是包括免疫表型分析，这样抗原表达可用于识别特定细胞的特定染色体及其异常。这种能力已在血癌中得到证实，例如慢性淋巴细胞白血病和浆细胞骨髓瘤。可实现的高灵敏度和特异性突出了流式细胞术在细胞基因组应用（即诊断和疾病监测）中的潜在成像应用。这篇综述介绍并描述了成像流式细胞仪在人类染色体染色体分析中的发展、现状和应用。