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

Publication ,  Journal Article
Leana-Cox, J; Levin, S; Surana, R; Wulfsberg, E; Keene, CL; Raffel, LJ; Sullivan, B; Schwartz, S
Published in: Am J Hum Genet
June 1993

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.

Duke Scholars

Published In

Am J Hum Genet

ISSN

0002-9297

Publication Date

June 1993

Volume

52

Issue

6

Start / End Page

1067 / 1073

Location

United States

Related Subject Headings

  • Phenotype
  • Male
  • Karyotyping
  • Infant, Newborn
  • Infant
  • In Situ Hybridization, Fluorescence
  • Humans
  • Genetics & Heredity
  • Gene Library
  • Female
 

Citation

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MLA
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Leana-Cox, J., Levin, S., Surana, R., Wulfsberg, E., Keene, C. L., Raffel, L. J., … Schwartz, S. (1993). Characterization of de novo duplications in eight patients by using fluorescence in situ hybridization with chromosome-specific DNA libraries. Am J Hum Genet, 52(6), 1067–1073.
Leana-Cox, J., S. Levin, R. Surana, E. Wulfsberg, C. L. Keene, L. J. Raffel, B. Sullivan, and S. Schwartz. “Characterization of de novo duplications in eight patients by using fluorescence in situ hybridization with chromosome-specific DNA libraries.Am J Hum Genet 52, no. 6 (June 1993): 1067–73.
Leana-Cox J, Levin S, Surana R, Wulfsberg E, Keene CL, Raffel LJ, et al. Characterization of de novo duplications in eight patients by using fluorescence in situ hybridization with chromosome-specific DNA libraries. Am J Hum Genet. 1993 Jun;52(6):1067–73.
Leana-Cox J, Levin S, Surana R, Wulfsberg E, Keene CL, Raffel LJ, Sullivan B, Schwartz S. Characterization of de novo duplications in eight patients by using fluorescence in situ hybridization with chromosome-specific DNA libraries. Am J Hum Genet. 1993 Jun;52(6):1067–1073.
Journal cover image

Published In

Am J Hum Genet

ISSN

0002-9297

Publication Date

June 1993

Volume

52

Issue

6

Start / End Page

1067 / 1073

Location

United States

Related Subject Headings

  • Phenotype
  • Male
  • Karyotyping
  • Infant, Newborn
  • Infant
  • In Situ Hybridization, Fluorescence
  • Humans
  • Genetics & Heredity
  • Gene Library
  • Female