Characterization of supernumerary ring marker chromosomes by fluorescence in situ hybridization (FISH)

Am J Hum Genet. 1993 Aug;53(2):433-42.


Five cases with small supernumerary ring chromosomes are characterized at the molecular level. Routine chromosome banding analysis was insufficient for identification of the ring chromosomes, and none of them was DA/DAPI positive. Fluorescence in situ hybridization utilizing repetitive centromeric probes for all chromosomes has determined that one of these five ring chromosomes originates in each of chromosomes 4, 7, 8, 9, and 20. Chromosome painting with chromosome-specific libraries has confirmed this and excluded the involvement of additional chromosomes in the rearrangements.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Child, Preschool
  • Chromosome Aberrations / diagnosis*
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Chromosomes, Human, Pair 20
  • Chromosomes, Human, Pair 4
  • Chromosomes, Human, Pair 7
  • Chromosomes, Human, Pair 8
  • Chromosomes, Human, Pair 9
  • Female
  • Genetic Markers*
  • Holoprosencephaly / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Male
  • Ring Chromosomes*


  • Genetic Markers