Clinical Molecular Cytogenetics

Serge P Romana, Hôpital Necker‐Enfants Malades, Paris, France
Michel Vekemans, Hôpital Necker‐Enfants Malades, Paris, France

Published online: January 2006

DOI: 10.1038/npg.els.0005573

Molecular cytogenetics is an important tool for the diagnosis and characterization of chromosome aberrations in clinical and cancer cytogenetics.

Keywords: fluorescence in situ hybridization; comparative genomic hybridization; spectral karyotype; multiplex FISH; spectral karyotyping

Figure 1. Diagnostic algorithm in clinical cytogenetics. CGH: comparative genomic hybridization; FISH: fluorescence in situ hybridization; HRB: high-resolution banding; M-FISH: multiplex-FISH; SKY: spectral karyotyping.
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 References
    Elghezal H, Le Guyader G, Radford-Weiss I, et al. (2001) Reassessment of childhood B-lineage lymphoblastic leukemia karyotypes using spectral analysis. Genes, Chromosomes and Cancer 30: 383–392.
    Gozzetti A and Le Beau MM (2000) Fluorescence in situ hybridization: uses and limitations. Seminars in Hematology 37: 320–333.
    Helias C, Leymarie V, Entz-Werle N, et al. (2002) Translocation t(5;14)(q35;q32) in three cases of childhood T-cell acute lymphoblastic leukemia: a new recurring and cryptic abnormality. Leukemia 16: 7–12.
    Kallioniemi A, Kallioniemi OP, Sudar D, et al. (1992) Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science 258: 818–821.
    Lichter P, Joos S, Bentz M and Lampel S (2000) Comparative genomic hybridization: uses and limitations. Seminars in Hematology 37: 348–357.
    Pinkel D, Segraves R, Sudar D, et al. (1998) High-resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nature Genetics 20: 207–211.
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 Further Reading
    book Andreeff M and Pinkel D (1999) Introduction to Fluorescence in Situ Hybridization. Principles and Clinical Applications. New York, NY: Wiley-Liss.
    book Rooney DE (2001) "Constitutional analysis". In: Rooney DE and Czepulkowski B (eds.) Human Cytogenetics: A Practical Approach, 3rd edn. Oxford, UK: Oxford University Press.
    book Rooney DE (2001) "Malignancy and acquired anomalies". In: Rooney DE and Czepulkowski B (eds.) Human Cytogenetics: A Practical Approach, 3rd edn. Oxford, UK: Oxford University Press.

Related Sub-Topics:

Replication and Recombination | Mutational Mechanisms of Genetic Disease | Cancer Genetics | Techniques and Tools in Clinical Genetics | Statistical Methodology in Genetics | Chromosomal Disorders | Chromosomes and Chromatin Modifications | Techniques and Tools in Molecular Biology | Computational Molecular Biology
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Article Title: Clinical Molecular Cytogenetics
 
How to Cite close
Romana, Serge P, and Vekemans, Michel(Jan 2006) Clinical Molecular Cytogenetics. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0005573]