High-resolution chromosome analysis: I. Applications and limitations

Am J Med Genet. 1984 Oct;19(2):291-9. doi: 10.1002/ajmg.1320190211.

Abstract

High-resolution chromosome preparations were examined in 55 couples experiencing multiple spontaneous abortions to determine if such studies might provide additional cytogenetic information. One translocation [46,XY,t(14;18) (q32; q22.2)] was detected that was not observed on routine metaphase preparations (GTG banding). In addition, an abnormality (not from the original sample) suspected on routine analysis was accurately identified as [46,XY, dir ins (12;21) (p12.3;q22.-1q22.2)] only after high-resolution studies. Metaphases with a total of 500-650 discernible bands per haploid set are most informative for high-resolution analysis of a complete karyotype. Chromosomes yielding this number of bands demonstrate 6.7-14.2% homolog discordance and usually require only three to five karyotypes to reach a diagnosis. GTG proved more effective than RBG banding in conjunction with high-resolution studies.

Publication types

  • Comparative Study

MeSH terms

  • Abortion, Habitual / genetics*
  • Chromosome Aberrations / genetics
  • Chromosome Banding / methods*
  • Chromosome Disorders
  • Female
  • Humans
  • Male
  • Metaphase
  • Pregnancy
  • Translocation, Genetic