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Updated: Oct 14, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Chromosome translocation (2;13)(q37;q14) in a disseminated alveolar rhabdomyosarcoma
R Engel1, J Ritterbach, D Schwabe
1Onkologisches Labor, Kinderklinik der Universität, Giessen, Federal Republic of Germany.
Abstract:
Chromosome analysis of tumour cells in the bone marrow of a 13.5-year-old girl (without a primary tumour) revealed a pseudo-diploid or pseudo-tetraploid karyotype with a translocation involving the long arms of chromosomes 2 and 13: t(2;13)(q37;q14). This finding enabled the diagnosis of a disseminated alveolar rhabdomyosarcoma (RMS) to be established. The patient was treated by cytotoxic chemotherapy, went into complete remission, but died of relapse 14 months after diagnosis. As several cases with this translocation have been described recently, this additional report confirms that t(2;13) is specific for the alveolar subtype of RMS.
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