Centromeric association of chromosome 16- and 18-derived microchromosomes

Hum Genet. 2002 Jul;111(1):16-25. doi: 10.1007/s00439-002-0744-0. Epub 2002 Jun 13.

Abstract

A supernumerary C-band-positive microchromosome was observed in 88% of lymphocyte metaphases from a healthy 24-year-old female. Traditional cytogenetic analyses failed to determine the microchromosome's origin and structure. However, hybridization experiments with a panel of chromosome-specific alpha-satellite probes demonstrated that this microchromosome was derived from chromosome 16 and consisted mainly of transcriptionally inactive alpha-satellite DNA. The microchromosome closely associated with the centromere of most chromosomes. An even more pronounced centromeric association pattern was observed in a further microchromosome that was found to contain chromosome 18-specific alpha-satellite DNA. The latter microchromosome was detected in a female newborn affected with fetal alcohol syndrome. The two microchromosomes described here did not appear to bear major phenotypic risks.

Publication types

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

MeSH terms

  • Adult
  • Centromere / genetics*
  • Chromosome Aberrations
  • Chromosome Banding
  • Chromosomes, Human, Pair 16 / genetics*
  • Chromosomes, Human, Pair 18 / genetics*
  • DNA Probes / genetics
  • DNA, Satellite
  • Female
  • Fibroblasts / physiology
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant, Newborn
  • Karyotyping
  • Lymphocytes / physiology
  • Metaphase / genetics

Substances

  • DNA Probes
  • DNA, Satellite