Skip to main content
Log in

Wilms' tumor, malformative syndrome, mental retardation and de novo constitutional translocation, t(7;13)(q36;q13)

  • Case Reports
  • Published:
European Journal of Pediatrics Aims and scope Submit manuscript

Abstract

An apparently balanced de novo constitutional translocation (7;13) (q36;q13) was detected on peripheral lymphocytes and fibroblasts of a 14-month-old boy. The patient presented a facial dysmorphism with hydrocephaly and mental retardation associated with a Wilms' tumor. A pure coincidence of random association cannot be ruled out but one can equally assert the plausibility of a minimal unnoticed deletion or a position effect.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  1. Beckwith JB, Wang CI, Donneil GM (1964) Macroglossia, omphalocele, adrenal cytomegaly, gigantism and hyperplastic visceromegaly. J Pediatr 65:1053–1057

    Google Scholar 

  2. Bove KE, Mc Adams (1976) The nephroblastomatosis complex and its relationship to Wilm's tumor. Perspect Pediatr Pathol 3:185–223

    Google Scholar 

  3. D'Angio GJ, Evans AE, Breslow N, Beckwith B, Bishop H, Feigl P, Goodwin W, Leape LL, Sinks LF, Sutow W, Tefft M, Wolff J (1976) The treatment of Wilms' tumor. Results of the National Wilms' tumor study. Cancer 38:633–641

    Google Scholar 

  4. Ferrell RE, Chakravarti A, Hittner HM, Riccardi VM (1980) Autosomal dominant aniridia: probable linkage to acid phosphatase-1 on chromosome 2. Proc Natl Acad Sci USA 77:1580–1582

    Google Scholar 

  5. Giangiacomo J, Penchransky L, Monteleone PL, Thomson J (1975) Bilateral-neonatal Wilms' tumor with BC chromosomal translocation. J Pediatr 86:98–102

    Google Scholar 

  6. Gieser CF, Schindler AM (1969) Long term survival in a boy with 18 trisomy and Wilms' tumor. Pediatrics 44:111–113

    Google Scholar 

  7. Kobayashi N, Furukawa T, Takatsu T (1968) Congenital anomalies in children with malignancy. Pediatr Univ Tokyo 16:31–37

    Google Scholar 

  8. Lenoir GM, Preud'homme JL, Bernheim A, Berger R (1982) Correlation between immunoglobulin light chain expression and variant translocation in Burkitt's lymphoma. Nature 298:474–476

    Google Scholar 

  9. Meadows AT, Leichtenfeld JL, Koop CE (1974) Wilms' tumor in three children of a woman with congenital hemihypertrophy. N Engl J Med 291:23–24

    Google Scholar 

  10. Miller RW, Fraumeni JF Jr, Manning MD (1964) Association of Wilms' tumor with aniridia, hemihypertrophy and other congenital malformations. N Engl J Med 270: 922–927

    Google Scholar 

  11. Miller RW (1977) Cancer and congenital malformations: an other view. In: Mulvihill JJ, Miller RW, Fraumeni JF Jr (eds) Genetics of human cancer. Raven Press, New York, pp 77–81

    Google Scholar 

  12. O'Riordan ML, Langlands AO, Harnden DG (1972) Further studies on the frequency of constitutional chromosome aberrations in patients with malignant disease. Eur J Cancer 8:373–379

    Google Scholar 

  13. Pendergrass TW (1976) Congenital anomalies in children with Wilms' tumor. Cancer 37:403–409

    Google Scholar 

  14. Riccardi VM, Sujansky E, Smith AC, Franck V (1978) Chromosomal imbalance in the aniridia-Wilms' tumor association; 11p interstitial deletion. Pediatrics 61: 604–608

    Google Scholar 

  15. Riccardi VM, Hittner HM, Franck V, Yunis JJ, Ledbetter DH, Borges W (1980) The antiridia-Wilms' tumor association: the critical role of chromosome band 11p13. Cancer Genet Cytogenet 2:131–137

    Google Scholar 

  16. Riccardi VM, Hittner HM, Strong LC, Fernbach DJ, Lebo R, Ferreu RE (1982) Wilms] tumor with aniridia-iris dysplasia and apparently normal chromosomes. J Pediatr 100/4:574–577

    Google Scholar 

  17. Schwartz NB, Bennett W, Curelop S, Bartter FC (1957) A syndrome of renal sodium loss and hyponatremia probably resulting from inappropriate secretion of antidiuretic hormone. Am J Med 23:529–542

    Google Scholar 

  18. Tank ES, Kay R (1980) Neoplasms associated with hemihypertrophy, Beckwith-Wiedemann syndrome and aniridia. J Urol 124:226–229

    Google Scholar 

  19. Voute PA, Lemerle J, Tournade MF, De Kraker J, Perry HJM (1982) Preoperative chemotherapy in Wilms' tumor. Results of clinical trials and studies on nephroblastomas conducted by the International Society of Pediatric Oncology (SIOP). In: Rayboud C, Clement R, Lebreuil G, Bernard JL (eds) Pediatric Oncology. Excerpta Medica, Amsterdam, pp 273–283

    Google Scholar 

  20. Yunis JJ (1976) High resolution of human chromosomes. Science 191:1268–1270

    Google Scholar 

  21. Yunis JJ, Ramsay NKC (1980) Familial occurrence of the aniridia-Wilms' tumor syndrome with deletion 11p 11-14-1. J Pediatr 96:1027–1030

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Bernard, J.L., Baeteman, M.A., Mattei, J.F. et al. Wilms' tumor, malformative syndrome, mental retardation and de novo constitutional translocation, t(7;13)(q36;q13). Eur J Pediatr 141, 175–177 (1984). https://doi.org/10.1007/BF00443220

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00443220

Key words

Navigation