Malignant teratoma of the testis with an isochromosome no. 12, i(12p), as the sole structural cytogenetic abnormality.
Cytogenetic analysis of a malignant teratoma of the testis revealed a hypotriploid karyotype with the presence of an isochromosome of the short arm of chromosome 12, i(12p), as the only structural abnormality. Most cells contained 3 copies of chromosome 12 and 2 copies of the i(12p) isochromosome. Thus, the genetic material located on the short arm of chromosome 12 was multiplied in the teratoma cells, being represented by 7 copies compared to 2 to 3 copies of other chromosomes. This finding confirms the reports that the i(12p) isochromosome is a specific chromosomal abnormality in cases of malignant testicular tumors.
D000328:Adult; D002869:Chromosome Aberrations; D002906:Chromosomes, Human, 6-12 and X; D006801:Humans; D007621:Karyotyping; D008297:Male; D013724:Teratoma / Q000235:genetics* / Q000648:ultrastructure; D013736:Testicular Neoplasms / Q000235:genetics* / Q000648:ultrastructure