Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities.
Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities.
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DOI：
10.1097/gim.0b013e3181f8baad
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发表时间：
2010-11
期刊：
影响因子：
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通讯作者：
Professional Practice and Guidelines Committee
中科院分区：
文献类型：
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作者：
Manning M;Hudgins L;Professional Practice and Guidelines Committee
在过去的几年里，随着微阵列技术的引入，对发育迟缓/智力残疾、先天性异常和畸形特征患者的实验室评估发生了显着变化。使用这些技术，可以检查患者的基因组中遗传物质的获得或损失，这些遗传物质太小而无法通过标准的G带染色体研究检测到。微阵列技术相对于常规细胞遗传学分析的这种增加的分辨率允许以更高的精确度、准确度和技术灵敏度鉴定染色体不平衡。各种基于阵列的平台现已可用于临床实践，并且利用策略也在不断发展。因此，本研究对这些技术的实用性和局限性进行了综述，并就目前和未来在临床环境中的应用提出了建议。
Laboratory evaluation of patients with developmental delay/intellectual disability, congenital anomalies, and dysmorphic features has changed significantly in the last several years with the introduction of microarray technologies. Using these techniques, a patient’s genome can be examined for gains or losses of genetic material too small to be detected by standard G-banded chromosome studies. This increased resolution of microarray technology over conventional cytogenetic analysis allows for identification of chromosomal imbalances with greater precision, accuracy, and technical sensitivity. A variety of array-based platforms are now available for use in clinical practice, and utilization strategies are evolving. Thus, a review of the utility and limitations of these techniques and recommendations regarding present and future application in the clinical setting are presented in this study.