Characterization of de novo duplications in eight patients by using fluorescence in situ hybridization with chromosome-specific DNA libraries.
Journal Article (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 1993
Published In
Volume / Issue
- 52 / 6
Start / End Page
- 1067 - 1073
PubMed ID
- 8503441
Pubmed Central ID
- PMC1682285
International Standard Serial Number (ISSN)
- 0002-9297
Language
- eng
Conference Location
- United States