A complex chromosomal rearrangement detected prenatally and studied by fluorescence in situ hybridization

Denise A.S. Batista, Cathy M. Tuck-Muller, Jose E. Martinez, William G. Kearns, Peter L. Pearson, Gail Stetten

Research output: Contribution to journalArticlepeer-review

Abstract

We report of case of a complex chromosomal rearrangement detected prenatally and studied with traditional banding methods and fluorescence in situ hybridization. The combination of these techniques showed that four chromosomes were involved in the translocation. Nine breakpoints were proposed to explain these results. Some of the findings could only be detected with fluorescence in situ hybridization, demonstrating the usefulness of this technique in characterizing chromosomal abnormalities that would otherwise be difficult to interpret correctly with classical cytogenetics alone.

Original languageEnglish (US)
Pages (from-to)117-121
Number of pages5
JournalHuman genetics
Volume92
Issue number2
DOIs
StatePublished - Sep 1 1993

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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