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Reverse chromosome painting: a method for the rapid analysis of aberrant chromosomes in clinical cytogenetics.
Open accessAbstract
We describe a method, termed reverse chromosome painting, which allows the rapid analysis of the content and breakpoints of aberrant chromosomes. The method involves the sorting of small numbers of the aberrant chromosome from short term blood culture preparations or cell lines by using bivariate flow karyotype analysis. The sorted chromosomes are amplified and biotin labelled enzymatically using a degenerate oligonucleotide-primed polymerase chain reaction (DOP-PCR), the product annealed to metaphase spreads from normal subjects, and hybridisation detected using fluorescence in situ hybridisation (FISH). We show the usefulness of this method for routine clinical cytogenetics by the analysis of cases involving an insertion, a deletion, a translocation, and two cases of a chromosome with additional material of unknown origin. The method has particular application for the rapid resolution of the origin of de novo unbalanced chromosome duplications.
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Citations
Cited by
The new cytogenetics: blurring the boundaries with molecular biology
Speicher, M. R., & Carter, N. P. (2005) · Nature Reviews Genetics · doi:10.1038/nrg1692 · Cited by 458
Self-citationFirst report on chicken genes and chromosomes 2000
Schmid, M., Nanda, I., Guttenbach, M., Steinlein, C., Hoehn, M., Schartl, M., Haaf, T., Weigend, S., Fries, R., Buerstedde, J.-M., et al. (2000) · Cytogenetic and Genome Research · doi:10.1159/000056772 · Cited by 355
A comparative study of karyotypes of muntjacs by chromosome painting
Yang, F., Carter, N. P., Shi, L., & Ferguson-Smith, M. A. (1995) · Chromosoma · doi:10.1007/bf00357691 · Cited by 254
Self-citationChromosome painting: a useful art
Ried, T. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.10.1619 · Cited by 154
Shibusawa, M., Nishida-Umehara, C., Masabanda, J., Griffin, D. K., Isobe, T., & Matsuda, Y. (2002) · Cytogenetic and Genome Research · doi:10.1159/000069813 · Cited by 42
Metadata
- Authors
- Carter, N. P., Ferguson-Smith, M. A., Perryman, M. T., Telenius, H., Pelmear, A. H., Leversha, M. A., Glancy, M. T., Wood, S. L., Cook, K., & Dyson, H. M.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 1992-05
- Volume
- 29
- Issue
- 5
- Pages
- 299-307
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2041466549
- Cited by
- 217
- References
- 0
- FWCI
- 11.20
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Reverse chromosome painting: a method for the rapid analysis of aberrant chromosomes in clinical cytogenetics. https://app.cochat.ai/papers/10.1136/jmg.29.5.299
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- Carter, N. P., Ferguson-Smith, M. A., Perryman, M. T., Telenius, H., Pelmear, A. H., Leversha, M. A., Glancy, M. T., Wood, S. L., Cook, K., & Dyson, H. M. (1992). Reverse chromosome painting: a method for the rapid analysis of aberrant chromosomes in clinical cytogenetics. Journal of Medical Genetics. https://doi.org/10.1136/jmg.29.5.299
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