Carpenter N J
Department of Cytogenetics and Molecular Genetics, HA Chapman Institute of Medical Genetics, Tulsa, OK 74135, USA.
Semin Pediatr Neurol. 2001 Sep;8(3):135-46. doi: 10.1053/spen.2001.26447.
In the past decade, clinical cytogenetics has undergone remarkable advancement as molecular biology techniques have been applied to conventional chromosome analysis. The limitations of conventional banding analysis in the accurate diagnosis and interpretation of certain chromosome abnormalities have largely been overcome by these new technologies, which include fluorescence in situ hybridization (FISH), comparative genomic hybridization (CGH), and multicolor FISH (M-FISH, SKY, and Rx-FISH). Clinical applications include diagnosis of microdeletion and microduplication syndromes, detection of subtelomeric rearrangements in idiopathic mental retardation, identification of marker and derivative chromosomes, prenatal diagnosis of trisomy syndromes, and gene rearrangements and gene amplification in tumors. Molecular cytogenetic methods have expanded the possibilities for precise genetic diagnoses, which are extremely important for clinical management of patients and appropriate counseling of their families.
在过去十年中，随着分子生物学技术应用于传统染色体分析，临床细胞遗传学取得了显著进展。传统显带分析在某些染色体异常的准确诊断和解读方面的局限性已被这些新技术在很大程度上克服，这些新技术包括荧光原位杂交（FISH）、比较基因组杂交（CGH）以及多色FISH（M-FISH、SKY和Rx-FISH）。临床应用包括微缺失和微重复综合征的诊断、特发性智力障碍中染色体亚端粒重排的检测、标记染色体和衍生染色体的鉴定、三体综合征的产前诊断以及肿瘤中的基因重排和基因扩增。分子细胞遗传学方法拓展了精确基因诊断的可能性，这对患者的临床管理及其家庭的适当咨询极为重要。
