Human Genetics

, Volume 67, Issue 4, pp 455–456

Del11p13/nephroblastoma without aniridia

  • Catherine Turleau
  • J. de Grouchy
  • Claire Nihoul-Fékété
  • J. L. Dufier
  • Françoise Chavin-Colin
  • Claudine Junien
Clinical Case Reports

Summary

A patient is reported with del11p13, low catalase level, nephroblastoma, chordee and cryptorchidism, no evident mental retardation, and with normal irides. This unique observation suggests the following order of loci in 11p13, from centromere to telomere: catalase, Wilms tumor, aniridia. The chromosomal origin of nephroblastoma may be more frequent than estimated on the basis of its association with aniridia.

References

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Copyright information

© Springer-Verlag 1984

Authors and Affiliations

  • Catherine Turleau
    • 1
    • 2
  • J. de Grouchy
    • 1
    • 2
  • Claire Nihoul-Fékété
    • 3
  • J. L. Dufier
    • 4
  • Françoise Chavin-Colin
    • 1
    • 2
  • Claudine Junien
    • 5
  1. 1.ER. 149 C.N.R.S.Hôpital Necker-Enfants-Malades 149Paris Cedex 15France
  2. 2.U. 173 I.N.S.E.R.M.Hôpital Necker-Enfants-Malades 149Paris Cedex 15France
  3. 3.Clinique Chirurgicale InfantileHôpital Necker-Enfants-MaladesFrance
  4. 4.Service d'OphtalmologieHôpital Necker-Enfants-MaladesFrance
  5. 5.Institut de Pathologie MoléculaireC.H.U. CochinParisFrance
  6. 6.Hôpital Necker-Enfants-Malades 149Paris Cedex 15France

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