Cytogenetic analysis of peripheral lymphocytes of an infantile patient with a sacral teratoma revealed a constitutional translocation (12;15)(q13;q25) pat. The same translocation was found in four additional relatives. Loss of heterozygosity analysis of the patient's tumor material showed retention of both translocation-derived chromosomes. Since allelic loss in the 12q13 region has been observed in germ cell tumors, we hypothesize that disregulation of genes located at or near the 12q13 breakpoint may be related to the development of this sacral teratoma. As a first step towards the identification of these genes, a 12q13 genomic contig that spans the breakpoint has been constructed.

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Persistent URL dx.doi.org/10.1016/S0165-4608(01)00666-5, hdl.handle.net/1765/58514
Journal Cancer Genetics and Cytogenetics
Citation
Veltman, I, van Asseldonk, M, Schepens, M, Stoop, J.A, Looijenga, L.H.J, Wouters, C.H, … Geurts van Kessel, A.H.M. (2002). A novel case of infantile sacral teratoma and a constitutional t(12;15)(q13;q25) pat. Cancer Genetics and Cytogenetics, 136(1), 17–22. doi:10.1016/S0165-4608(01)00666-5