AcroM fluorescent in situ hybridization analyses of marker chromosomes

Hum Genet. 2001 Aug;109(2):152-8. doi: 10.1007/s004390100571.


The presence of a de novo supernumerary marker chromosome (SMC) poses problems in genetic counseling. The consequences of the additional chromosomal material may range from harmless to detrimental. As the composition of a SMC cannot be deciphered by traditional banding analysis, sophisticated methods are needed for their rapid and detailed analyses. A new strategy is presented, which allows the elucidation of the composition of SMCs in one or two hybridizations. One hybridization, termed AcroM-FISH, involves a newly generated probe mix, which consists of painting probes for all acrocentric chromosomes, centromere probes for chromosomes 13/21, 14/22, 15, and a probe specific for rDNA, each labeled with a specific combination of fluorochromes. This probe mix is sufficient to characterize approximately 80% of all SMCs. For the other 20% of SMCs, chromosomes can be analyzed in a second hybridization by multicolor karyotyping, for example, multiplex FISH (M-FISH), to check for the presence of euchromatin of other chromosomes. The potential of AcroM-FISH was tested in various applications.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Centromere
  • Child, Preschool
  • Chromatin / genetics
  • Chromosome Aberrations / diagnosis
  • Chromosome Aberrations / genetics*
  • Chromosome Banding
  • Chromosome Disorders
  • Chromosome Painting / methods*
  • Chromosomes, Human / genetics*
  • DNA, Ribosomal / chemistry
  • Fluorescent Dyes
  • Genetic Markers*
  • Humans
  • In Situ Hybridization, Fluorescence*
  • Karyotyping / methods
  • Male
  • Nucleic Acid Probes
  • Sensitivity and Specificity


  • Chromatin
  • DNA, Ribosomal
  • Fluorescent Dyes
  • Genetic Markers
  • Nucleic Acid Probes