The development of microarray-based comparative genomic hybridization (array CGH) methods represents a critical new advance in molecular cytogenetics. This new technology has driven a technical convergence between molecular diagnostics and clinical cytogenetics, questioned our naïve understanding of the complexity of the human genome, revolutionized the practice of medical genetics, challenged conventional wisdom related to the genetic bases of multifactorial and sporadic conditions, and is poised to impact all areas of medicine. The use of contemporary molecular cytogenetic techniques in research and diagnostics has resulted in the identification of many new syndromes, expanded our knowledge about the phenotypic spectrum of recognizable syndromes, elucidated the genomic bases of well-established clinical conditions, and refined our view about the molecular mechanisms of some chromosomal aberrations. Newer methodologies are being developed, which will likely lead to a new understanding of the genome and its relationship to health and disease.

中文翻译：

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当代分子细胞遗传学的临床应用。

基于微阵列的比较基因组杂交（阵列CGH）方法的发展代表了分子细胞遗传学的重要新进展。这项新技术推动了分子诊断学和临床细胞遗传学之间的技术融合，质疑了我们对人类基因组复杂性的幼稚理解，彻底改变了医学遗传学的实践，挑战了与多因素和偶发性疾病的遗传基础有关的传统知识，并且准备影响医学的所有领域。在研究和诊断中使用现代分子细胞遗传学技术已导致鉴定出许多新的综合征，扩大了我们对可识别综合征的表型谱的了解，阐明了行之有效的临床条件的基因组基础，并完善了我们对某些染色体畸变的分子机制的看法。正在开发新的方法，这可能会导致对基因组及其与健康和疾病之间关系的新认识。