Identification of a ring chromosome with spectral karyotyping in a pleural synovial sarcoma

Jun Nishio, Hiroshi Iwasaki, Pamela A. Althof, Sabine Naumann, Masako Ishiguro, Seiji Haraoka, Akinori Iwashita, Akinori Iwasaki, Yoshio Kaku, Yasuhiko Kaneko, Masahiro Kikuchi, Julia A. Bridge

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


The origin of a ring chromosome in a monophasic synovial sarcoma of the diaphragmatic pleura of an 18-year-old man was investigated using spectral karyotyping (SKY) and fluorescence in situ hybridization (FISH). Conventional cytogenetic analysis revealed the following clonal karyotypic abnormalities: 47,Y,t(X;18)(p11.2;q11.2),t(11;19)(q12;q13.4),+12,-13,+r[6]. The SYT-SSX1 fusion transcript was detected with reverse transcriptase-polymerase chain reaction analysis. SKY analysis suggested that the ring chromosome was composed of material from chromosome 8. Subsequent FISH analysis with a whole-chromosome 8 paint probe confirmed the SKY results. This study demonstrates the usefulness of SKY as an adjunct for determining the chromosomal composition of ring chromosomes.

Original languageEnglish (US)
Pages (from-to)174-178
Number of pages5
JournalCancer genetics and cytogenetics
Issue number2
StatePublished - Jul 15 2005

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Cancer Research

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