TY - JOUR T1 - Physical localisation of the breakpoints of a constitutional translocation t(5;6)(q21;q21) in a child with bilateral Wilms' tumour. JF - Journal of Medical Genetics JO - J Med Genet SP - 343 LP - 345 DO - 10.1136/jmg.34.4.343 VL - 34 IS - 4 AU - P R Hoban AU - R L Cowen AU - E L Mitchell AU - D G Evans AU - M Kelly AU - P J Howard AU - J Heighway Y1 - 1997/04/01 UR - http://jmg.bmj.com/content/34/4/343.abstract N2 - A 6 month old boy presented with bilateral Wilms' tumour. Cytogenetic analysis of the lymphocytes from the patient showed a de novo balanced translocation t(5;6)(q21;q21), which was also present in the tumour material as the sole cytogenetic abnormality. To facilitate the identification of the translocation breakpoints, we have established a lymphoblastoid cell line (MA214L) from the patient which maintains the translocation in culture. We have used Genethon microsatellite markers as sequence tagged sites (STSs) to isolate yeast artificial chromosome (YAC) clones to 5q and 6q from human genomic libraries. Using fluorescence in situ hybridisation (FISH) on metaphase preparations of MA214L, we have physically defined the translocation breakpoints between YAC clones on each chromosome arm. The genetic distance separating the flanking YACs on 6q21 is 3 cM, while that on 5q21 is 4 cM. To date this is the first report of these chromosomal regions being implicated in Wilms' tumourigenesis. ER -