10p duplication characterized by fluorescence in situ hybridization

A. Wiktor, G. L. Feldman, P. Kratkoczki, D. M. Ditmars, D. L. Van Dyke

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Abstract

We describe a patient with severe failure to thrive, mild-moderate developmental delay, cleft lip and palate, and other anomalies. Routine cytogenetic analysis documented a de novo chromosome rearrangement involving chromosome 4, but the origin of the derived material was unknown. Using chromosome specific painting probes, the karyotype was defined as 46,XY,der(4) t(4;10)(q35;p11.23). Characterization of the dup(10p) by fluorescence in situ hybridization (FISH) analysis provides another example of the usefulness of this technology in identifying small deletions, duplications, or supernumerary marker chromosomes.

Original languageEnglish (US)
Pages (from-to)315-318
Number of pages4
JournalAmerican journal of medical genetics
Volume52
Issue number3
DOIs
StatePublished - Jan 1 1994

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Keywords

  • 10p duplication
  • FISH
  • chromosome painting probes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Wiktor, A., Feldman, G. L., Kratkoczki, P., Ditmars, D. M., & Van Dyke, D. L. (1994). 10p duplication characterized by fluorescence in situ hybridization. American journal of medical genetics, 52(3), 315-318. https://doi.org/10.1002/ajmg.1320520312