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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.

Type

Journal

American journal of human genetics

Publication Date

06/1993

Volume

52

Pages

1067 - 1073

Addresses

Department of Obstetrics and Gynecology, University of Maryland School of Medicine, Baltimore.

Keywords

Humans, Chromosome Disorders, Chromosome Aberrations, Aneuploidy, DNA, In Situ Hybridization, Fluorescence, Karyotyping, Phenotype, Gene Library, Child, Infant, Infant, Newborn, Female, Male