Characterization of marker chromosomes by microdissection and fluorescence in situ hybridization

Prenat Diagn. 1994 Jul;14(7):583-8. doi: 10.1002/pd.1970140712.


We characterized by microdissection and fluorescence in situ hybridization (FISH) two marker chromosomes: (1) a de novo, acrocentric marker chromosome detected in 88 per cent of the amniotic fluid cells of one of two physically and developmentally normal twins; and (2) a metacentric marker chromosome present in a phenotypically normal female. Analysis of FISH probes developed from the marker chromosomes indicated that the marker chromosomes in cases 1 and 2 were del(14)(q11) and a derivative chromosome from a Robertsonian translocation, respectively. Microdissection in combination with FISH may prove to be a valuable technique in determining the chromosomal origin of de novo marker chromosomes and unbalanced structural rearrangements detected during prenatal diagnosis.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amniocentesis
  • Base Sequence
  • Chromosome Aberrations*
  • Chromosomes / ultrastructure*
  • Chromosomes, Human, Pair 1
  • Chromosomes, Human, Pair 14
  • Chromosomes, Human, Pair 9
  • DNA Probes
  • Diseases in Twins / genetics
  • Female
  • Gene Deletion
  • Humans
  • In Situ Hybridization, Fluorescence*
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Pregnancy
  • Prenatal Diagnosis*
  • Ultrasonography, Prenatal


  • DNA Probes