Molecular characterization of a (1;10)(p22;q21) constitutional translocation from a patient with neuroblastoma

A constitutional t(1;10)(p22;q21) from a patient with stage IVS neuroblastoma has been isolated in somatic cell hybrids and the position of the breakpoints analyzed. On chromosome 1 the breakpoint lies in a 4-Mbp region flanked by minisatellite marker D1S234 and by D1S188, which lies in the region of F3. The chromosome 10 breakpoint lies between RBP3 and NAKNR below the MEN2 locus. Because, in patients with genetic disease, constitutional translocations frequently interrupt genes which are related to the clinical phenotype this rearrangement has identified two regions which potentially contain genes related to the development of neuroblastoma.