Detection of chromosomal aberrations by a whole-genome microsatellite screen

Am J Hum Genet. 2000 Feb;66(2):419-27. doi: 10.1086/302743.


Chromosomal aberrations are a common cause of multiple anomaly syndromes that include developmental and growth retardation. Current microscopic techniques are useful for the detection of such aberrations but have a limit of resolution that is above the threshold for phenotypic effect. We hypothesized that a genomewide microsatellite screen could detect chromosomal aberrations that were not detected by standard cytogenetic techniques in a portion of these individuals. To test this hypothesis, we performed a genomewide microsatellite screen of patients, by use of a currently available genetic-marker panel that was originally designed for meiotic mapping of Mendelian traits. We genotyped approximately 400 markers on 17 pairs of parents and their children who had normal karyotypes. By using this approach, we detected and confirmed two cases of segmental aneusomy among 11 children with multiple congenital anomalies. These data demonstrate that a genomewide microsatellite scan can be used to detect chromosomal aberrations that are not detected by microscopic techniques.

MeSH terms

  • Abnormalities, Multiple / genetics
  • Alleles
  • Child
  • Chromosome Aberrations / genetics*
  • Female
  • Gene Duplication
  • Genetic Testing / methods*
  • Genome, Human*
  • Genotype
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Male
  • Meiosis / genetics
  • Microsatellite Repeats / genetics*
  • Nuclear Family
  • Pilot Projects
  • Reproducibility of Results
  • Sequence Deletion / genetics