Lee C, Gisselsson D, Jin C, Nordgren A, Ferguson D O, Blennow E, Fletcher J A, Morton C C
Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, MA 02115, USA.
Am J Hum Genet. 2001 Apr;68(4):1043-7. doi: 10.1086/319503. Epub 2001 Feb 19.
Multicolor karyotyping technologies, such as spectral karyotyping (SKY) (Schröck et al.1996; Liyanage et al. 1996) and multiplex (M-) FISH (Speicher et al. 1996), have proved to be extremely useful in prenatal, postnatal, and cancer cytogenetics. However, these technologies have inherent limitations that, in certain situations, may result in chromosomal misclassification. In this report, we present nine cases, which fall into five categories, in which multicolor karyotyping has produced erroneous interpretations. Most errors appear to have a similar mechanistic basis.
多色核型分析技术,如光谱核型分析(SKY)(施罗克等人,1996年;利亚纳吉等人,1996年)和多重(M-)荧光原位杂交(斯派彻等人,1996年),已被证明在产前、产后和癌症细胞遗传学中极为有用。然而,这些技术存在固有的局限性,在某些情况下可能导致染色体错误分类。在本报告中,我们展示了九例属于五类的病例,其中多色核型分析产生了错误的解读。大多数错误似乎有相似的机制基础。