Limitations of chromosome classification by multicolor karyotyping

Am J Hum Genet. 2001 Apr;68(4):1043-7. doi: 10.1086/319503. Epub 2001 Feb 19.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Artifacts
  • Chromosome Aberrations / genetics*
  • Chromosome Banding / methods
  • Chromosome Deletion
  • Chromosome Painting / methods*
  • Color
  • Fluorescence
  • Humans
  • Karyotyping / methods
  • Mice
  • Mutation / genetics
  • Reproducibility of Results
  • Research Design
  • Translocation, Genetic
  • Tumor Cells, Cultured