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Cited by 217

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Reverse chromosome painting: a method for the rapid analysis of aberrant chromosomes in clinical cytogenetics.

Open access
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·Journal of Medical Genetics

Abstract

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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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
The paper
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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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.