Summary
Most patients with the complex association aniridia — predisposition to Wilms' tumor (WAGR syndrome) present with a de novo constitutional deletion of band 11p13. We report a patient with WAGR syndrome and a reciprocal translocation between chromosomes 5 and 11 t(5;11)(q11;p13). High resolution banding cytogenetic analysis and molecular characterization using 11p13 DNA markers showed a tiny deletion encompassing the gene for CAT but sparing the gene for FSHB. This suggests that syndromes associated with apparently balanced translocations may be due to undetectable loss of material at the breakpoint(s) rather than to breakage in the gene itself.
Similar content being viewed by others
References
Francke U, Holmes LB, Atkins L, Riccardi VM (1979) Aniridia-Wilms' tumor association: evidence for specific deletion of 11p13. Cytogenet Cell Genet 24:185–192
Glaser T, Lewis WH, Bruns GAP, Watkins PC, Rogler CE, Shows TB, Powers VE, Willard HF, Goguen JM, Simola KOJ, Housman DE (1986) The β subunit of follicle stimulating hormone is deleted in patients with aniridia and Wilms' tumor, allowing a further definition of the WAGR locus. Nature 321:882–887
Gödde-Salz E, Behnke H (1981) Aniridia, mental retardation and unbalanced reciprocal translocation of chromosomes 8 and 11 with an interstitial deletion of 11p. Eur J Pediatr 136:93–96
Henry I, Azoulay M, Barichard F, Rethoré MO, Junien C (1985) The gene for catalase is in the proximal part of 11p13. Cytogenet Cell Genet 40:648
Junien C, Turleau C, Grouchy J de, Said R, Rethoré MO, Tenconi R, Dufier JL (1980) Regional assignment of catalase (CAT) gene to band 11p13. Association with the aniridia-Wilms' tumor gonadoblastoma (WAGR) complex. Ann Génét (Paris) 23:165–168
Junien C, Huerre C, Rethoré MO (1983) Direct gene dosage in patients with unbalanced chromosomal aberrations using cloned DNA sequences. Application to the regional assignment of COLIA2. Am J Hum Genet 35:584–591
Moore JW, Hyman S, Antonarakis SE, Mules EH, Thomas GH (1986) Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)]. Hum Genet 72:297–302
Riccardi VM, Sujansky E, Smith AC, Francke U (1978) Chromosomal imbalance in the aniridia-Wilms' tumor association: 11p interstitial deletion. Pediatrics 61:604–610
Sanders-Haigh L, Anderson F, Francke U (1980) The β globin gene is on the short arm of human chromosome 11. Nature 283:683–686
Simola KOS, Knuutila S, Kaitila I, Pirkoia A, Pohja P (1983) Familial aniridia and translocation t(4;11)(q22;p13) without Wilms' tumor. Hum Genet 63:158–161
Southern EM (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98:503–517
Turleau C, Grouchy J de, Tournade MF, Cagnadoux MF, Junien C (1984) Del 11p/aniridia complex. Report of three patients and review of 37 observations from the literature. Clin Genet 26:356–362
Van Heyningen V, Boyd PA, Seawright A, Fletcher JM, Fantes JA, Buckton KE, Spowart G, Porteous DJ, Hill RE, Newton MS, Hastie ND (1985) Molecular analysis of chromosome 11 deletions in aniridia-Wilms' tumor syndrome. Proc Natl Acad Sci USA 82: 8592–8596
Viegas-Péquignot E, Dutrillaux B (1978) Une méthode simple pour obtenir des prophases et des prométaphases. Ann Génét (Paris) 21:122–125
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Puissant, H., Azoulay, M., Serre, JL. et al. Molecular analysis of a reciprocal translocation t(5;11)(q11;p13) in a WAGR patient. Hum Genet 79, 280–282 (1988). https://doi.org/10.1007/BF00366252
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00366252