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A detailed karyotype analysis using fluorescence in situ hybridization (FISH), with 24 chromosome-specific paint probes has been carried out on newly established cell lines from two testicular tumors, an i(12p)-positive teratoma, and an i(12p)-negative combined seminoma/teratoma. This has been correlated with loss of heterozygosity (LOH) and allelic imbalance, using DNA RFLP analysis to clarify the genetic changes and to identify any common regions of deletion or rearrangement. With G-banding alone, a total of 11 breakpoints were recognized. After FISH, the position of seven required revision, and 21 new ones were identified. The chromosomes involved most frequently in both tumors were numbers 1, 12, and 18. Breakpoints in 11q and 16q were also seen in both, and seven or more copies of 12p per cell were found in all clones. LOH was found for 18q in both tumors, and overall was much more frequent in underrepresented regions (one or two copies). On the whole, there was good agreement between the cytogenetic and DNA RFLP data; loci showing allelic imbalance generally had an odd number of copies of the chromosome region in which they were known to be located. Combined data on the chromosome 1 translocations in both tumors suggested that rearrangements were more complicated than cytogenetics alone had predicted.

Original publication




Journal article


Cancer Genet Cytogenet

Publication Date





26 - 36


Alleles, Aneuploidy, Blotting, Southern, Chromosome Aberrations, Chromosome Banding, Gene Deletion, Heterozygote, Humans, In Situ Hybridization, Fluorescence, Karyotyping, Male, Polymorphism, Restriction Fragment Length, Seminoma, Teratoma, Testicular Neoplasms, Tumor Cells, Cultured