Characterization of de novo duplications in eight patients by using fluorescence in situ hybridization with chromosome-specific DNA libraries.

Published

Journal Article

Fluorescence in situ hybridization (FISH) with chromosome-specific DNA libraries was performed on samples from eight patients with de novo chromosomal duplications. In five cases, the clinical phenotype and/or cytogenetic evaluations suggested a likely origin of the duplicated material. In the remaining three cases, careful examination of the GTG-banding pattern indicated multiple possible origins; hybridization with more than one chromosome-specific library was performed on two of these cases. In all cases, FISH conclusively identified the chromosomal origin of the duplicated material. In addition, the hybridization pattern was useful in quantitatively delineating the duplication in two cases.

Full Text

Duke Authors

Cited Authors

  • Leana-Cox, J; Levin, S; Surana, R; Wulfsberg, E; Keene, CL; Raffel, LJ; Sullivan, B; Schwartz, S

Published Date

  • June 1, 1993

Published In

Volume / Issue

  • 52 / 6

Start / End Page

  • 1067 - 1073

PubMed ID

  • 8503441

Pubmed Central ID

  • 8503441

International Standard Serial Number (ISSN)

  • 0002-9297

Language

  • eng

Conference Location

  • United States