Limitations of Chromosome Classification by Multicolor Karyotyping
Open accessAbstract
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.
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Chromosomal painting tends to misclassify small insertions and small translocations.
“Although chromosomal painting provides an efficient technique to discover large-scale similarity of continuous homology, it tends to misclassify small insertions and small translocations [21].”
From halSynteny: a fast, easy-to-use conserved synteny block construction method for multiple whole-genome alignments (2020) · cites this paper as [21]
In “Limitations of Chromosome Classification by Multicolor Karyotyping” (page unavailable), the paper reports missed or misclassified small insertions and translocations with SKY/M-FISH. The claim is too broad if “chromosomal painting” includes conventional painting: the paper explicitly says conventional painting does not produce similar algorithmic misinterpretations and recommends it to check SKY/M-FISH results. (LLM, conf=0.88)
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Research works printed but not linked: 2
- Choo KHA (1997) The centromere. Oxford University Press, Oxford
- Lee C, Rens W, Yang F (2000) Multicolor fluorescence in situ hybridization (FISH) approaches for simultaneous analysis of the entire human genome. In: Dracopoli NC, Haines JL, Korf BR, Morton CC, Seidman CE, Seidman JG, Smith DR (eds) Current protocols in human genetics. John Wiley and Sons, New York, pp 4.9.1-4.9.11.
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Krasheninnikova, K., Diekhans, M., Armstrong, J., Dievskii, A., Paten, B., & O'Brien, S. (2020) · GigaScience · doi:10.1093/gigascience/giaa047 · Cited by 30 · see citing works
- Authors
- Lee, C., Gisselsson, D., Jin, C., Nordgren, A., Ferguson, D. O., Blennow, E., Fletcher, J. A., & Morton, C. C.
- Affiliations
- Brigham and Women's Hospital (US)
- Lund University (SE)
- Karolinska University Hospital (SE)
- Corresponding author
- Morton, Cynthia C.
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2001-04
- Volume
- 68
- Issue
- 4
- Pages
- 1043-1047
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC1275623
- OpenAlex
- W2047553743
- Cited by
- 82
- References
- 0
- Citations by year
- 2026: 1 · 2025: 3 · 2024: 2 · 2022: 1 · 2021: 1 · 2020: 1 · 2019: 1 · 2018: 2 · 2017: 1 · 2016: 4 · 2015: 1 · 2013: 2 · 2012: 4
- FWCI
- 5.33
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Lund University Publications (Lund University) (submittedVersion)
- Research Explorer (The University of Manchester) (submittedVersion)
- Funders
- American Cancer Society
- Cancerfonden
- Svenska Läkaresällskapet
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- spectral karyotyping, multiplex FISH
- MeSH terms
- Animals, Chromosome Aberrations, Chromosome Banding, Chromosome Deletion, Color, Fluorescence, Humans, Karyotyping, Mutation, Research Design, Translocation, Genetic, Tumor Cells, Cultured, Reproducibility of Results, Artifacts, Chromosome Painting, Mice
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