Characterization of marker chromosomes by fish using microdissected probes from old Carnoy-fixed cells: report of two cases

Jpn J Hum Genet. 1997 Dec;42(4):543-9. doi: 10.1007/BF02767032.

Abstract

We reported on two patients with a de novo marker chromosome of which the origins were successfully identified by FISH using microdissected probes. These probes were established by microdissections of extra chromosomal segments from Carnoy-fixed cells stored at -20 degrees C for several years. Using these probes, we could verify partial 1q32 trisomy in a patient with 17p+ as well as partial 16q2 trisomy in another patient with 4p+.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Acetic Acid*
  • Child, Preschool
  • Chromosome Banding
  • Chromosomes, Human, Pair 17*
  • Chromosomes, Human, Pair 4*
  • DNA Probes
  • Ethanol*
  • Female
  • Fixatives*
  • Genetic Markers
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability / genetics
  • Polymerase Chain Reaction

Substances

  • DNA Probes
  • Fixatives
  • Genetic Markers
  • Ethanol
  • Acetic Acid