Automatic detection of fragile X chromosomes using an X centromere probe

Cytometry. 1990;11(1):73-9. doi: 10.1002/cyto.990110109.

Abstract

In order to score for the fragile X syndrome, blood samples are prepared with absorption stain labeling by in situ hybridisation of the X chromosome centromeres. Metaphases are located, digitised at high resolution, and segmented fully automatically. A three stage adaptive classification scheme for labeled X chromosomes is then applied. This consists of a simple box classifier to identify plausible X and false positive X chromosomes, followed by a quadratic discriminant classifier that is re-trained for each sample. The modal number of X chromosomes is then determined for each sample and used to refine the classification. A simple fragile site detector is applied to the distal portion of the detected X chromosome long arms. From the results we estimate computer and operator time requirements for a screening system in which the operator reviews only the apparently fragile X chromosomes detected by the computer.

MeSH terms

  • Biotin / analogs & derivatives
  • Centromere / analysis*
  • Chromosomes / analysis*
  • DNA, Satellite / analysis
  • Female
  • Fragile X Syndrome / diagnosis*
  • Horseradish Peroxidase
  • Humans
  • Image Processing, Computer-Assisted
  • Male
  • Nucleic Acid Hybridization
  • Nucleic Acid Probes
  • Sex Chromosome Aberrations / diagnosis*
  • Sex Chromosomes / analysis
  • X Chromosome / ultrastructure*

Substances

  • DNA, Satellite
  • Nucleic Acid Probes
  • Biotin
  • Horseradish Peroxidase