Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISH (original) (raw)

Abstract.

The simultaneous identification, by fluorescence in situ hybridisation (FISH), of each chromosome in a distinct colour became feasible a few years ago. The key question in the application of this and many other developments in molecular cytogenetics to clinical situations is whether the results add significant further information that is relevant to the diagnosis. So far, limited data exist regarding how much improvement the technique brings to the diagnosis of phenotypically abnormal individuals in whom no abnormalities have been detected by conventional G-banding analysis. Because of the lack of a conclusive diagnosis, genetic counselling, estimation of recurrence risk and prenatal diagnosis of these individuals and their relatives is problematic. We report a study with 24-colour whole-chromosome painting of 10 familial and 11 isolated cases with abnormal phenotypes and normal G-banding karyotypes. Previously undetected unbalanced translocations were revealed in two cases. The value and current cost-effectiveness of multicolour FISH for cytogenetic diagnosis is discussed.

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Authors and Affiliations

1. Laboratory of Cytochemistry and Cytometry, Department of Molecular Cell Biology, Leiden University Medical Center, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands, , , , ,
   Vladimir Bezrookove, Marja van der Burg, Joop Wiegant, Anton K. Raap, Hans Tanke & Carla Rosenberg
2. MGC-Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands, , , , ,
   Kerstin Hansson, Jasper J. van der Smagt, Yvonne Hilhorst-Hofstee, Geoff C. Beverstock & Martijn H. Breuning

Authors

1. Vladimir Bezrookove
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2. Kerstin Hansson
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3. Marja van der Burg
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4. Jasper J. van der Smagt
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5. Yvonne Hilhorst-Hofstee
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6. Joop Wiegant
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7. Geoff C. Beverstock
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8. Anton K. Raap
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9. Hans Tanke
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10. Martijn H. Breuning
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11. Carla Rosenberg
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Bezrookove, V., Hansson, K., van der Burg, M. et al. Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISH.Hum Genet 106, 392–398 (2000). https://doi.org/10.1007/s004390000268

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• Received: 03 December 1999
• Accepted: 16 February 2000
• Issue Date: April 2000
• DOI: https://doi.org/10.1007/s004390000268

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