Detection of a human chromosomal translocation t(8;9) in a baby with multiple malformations using two‐color fluorescence in situ hybridization

Kohsuke Sasaki, Daniel Pinkel, Masato Tsukahara, Ichiro Murano, Joe W. Gray

Research output: Contribution to journalArticle

2 Scopus citations

Abstract

A human chromosomal translocation t(8;9) was detected using two‐color fluorescence in situ hybridization with probes capable of staining the entire lengths of each of these chromosomes. The chromosome 8 probe was labeled with biotin and detected with Texas red, while the chromosome 9 probe was labeled with AAF and detected with FITC. In normal metaphase spreads, two metaphases from the proband, two red, one green and one part red and part green derivative chromosome were seen. The bicolor chromosome corresponded to translocation of a chromosome 8 segment to the distal part of the q region of one chromosome 9, as originally indicated by banding analysis. In interphase nuclei of the proband, four domains with bright fluorescence were recognized in many nuclei. Two were red, one was green, and the fourth had portions of both colors, indicating the presence of the translocation.

Original languageEnglish (US)
Pages (from-to)145-150
Number of pages6
JournalPathology International
Volume44
Issue number2
DOIs
StatePublished - Feb 1994

Keywords

  • DNA probes
  • chromosome
  • fluorescence in situ hybridization (FISH)
  • translocation

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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