In situ hybridization analysis of isodicentric X-chromosomes with short arm fusion

J E Koch, S Kølvraa, Jens Michael Hertz, K Rasmussen, N Gregersen, G F Fly, L A Bolund

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Abstract

We present here an alternative approach to the study of mosaic cell lines containing dicentric chromosomes. The approach is based on chromosome-specific non-radioactive in situ hybridization with centromere (alpha satellite DNA) probes. The hybridization analysis may be used as an alternative to the C-band analysis, while at the same time to some extent replacing the Q-band analysis as well. The advantage of using in situ hybridization is mainly that it allows the very fast screening of a large number of metaphases. We illustrate this new application of the technique by using it for the analysis of two cases of isodicentric X-chromosomes. The approach is expected to be generally applicable, so that it may be applied to the scoring of other types of chromosomal mosaicism as well.
Original languageEnglish
JournalClinical Genetics
Volume37
Issue number6
Pages (from-to)450-5
Number of pages6
ISSN0009-9163
Publication statusPublished - 1990

Keywords

  • Child
  • Chromosome Aberrations
  • Chromosome Banding
  • Chromosome Mapping
  • Cytogenetics
  • DNA Probes
  • Evaluation Studies as Topic
  • Female
  • Humans
  • Mosaicism
  • Nucleic Acid Hybridization
  • X Chromosome

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    Koch, J. E., Kølvraa, S., Hertz, J. M., Rasmussen, K., Gregersen, N., Fly, G. F., & Bolund, L. A. (1990). In situ hybridization analysis of isodicentric X-chromosomes with short arm fusion. Clinical Genetics, 37(6), 450-5.