Gonzales Patrick R
Department of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City, KS 66160, USA.
Genes (Basel). 2025 Jun 4;16(6):688. doi: 10.3390/genes16060688.
Over the past several decades, clinical cytogenetics has branched out from the use of light microscopy and examination of banded chromosomes to embrace multiple newer techniques, including fluorescence in situ hybridization (FISH), multiple generations of microarray designs, as well as the newest technologies, namely, optical genome mapping (OGM) and genomic proximity mapping (GPM). While these newer technologies have had an increasingly molecular genetic focus over time, they are still rooted in the field of cytogenetics, the genetics of the single cell. This review provides a brief overview of the earliest, as well as the most recent, techniques available to clinical cytogenetics laboratories for both constitutional and neoplastic testing and discusses some advantages and disadvantages of each.
在过去几十年中，临床细胞遗传学已从使用光学显微镜和检查带型染色体发展到采用多种更新技术，包括荧光原位杂交（FISH）、多代微阵列设计以及最新技术，即光学基因组图谱（OGM）和基因组邻近图谱（GPM）。随着时间的推移，这些更新技术越来越聚焦于分子遗传学，但它们仍然扎根于细胞遗传学领域，即单细胞遗传学。本综述简要概述了临床细胞遗传学实验室可用于先天性和肿瘤检测的最早以及最新技术，并讨论了每种技术的一些优缺点。
