Chromosome painting using FISH (fluorescence in situ hybridization) with chromosome-6-specific library demonstrates the origin of a de novo 6q+ marker chromosome

Clin Genet. 1993 May;43(5):235-9. doi: 10.1111/j.1399-0004.1993.tb03809.x.

Abstract

We report the application of chromosome painting using FISH (fluorescence) in situ hybridization) to demonstrate the origin of a de novo 6q+ marker chromosome. A girl with a mental retardation/multiple malformation syndrome was shown to have the karyotype 46,XX, 6q+. Banding analysis could not determine the origin of the extra chromosomal material. Using FISH with a chromosome-6-specific library we showed that the marker chromosome was completely painted, indicating an origin from chromosome 6. The child's phenotype was compared with previously reported cases with partial chromosome 6 trisomy. A clinically recognized syndrome emerged, although she apparently also demonstrated novel features.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics
  • Chromosomes, Human, Pair 6*
  • Female
  • Gene Rearrangement
  • Genetic Markers
  • Genomic Library*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant, Newborn
  • Intellectual Disability / genetics
  • Karyotyping
  • Phenotype
  • Suppression, Genetic
  • Trisomy*

Substances

  • Genetic Markers