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Del11p13/nephroblastoma without aniridia

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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.

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Authors and Affiliations

  1. ER. 149 C.N.R.S., Hôpital Necker-Enfants-Malades 149, rue de Sèvres, F-75743, Paris Cedex 15, France

    Catherine Turleau, J. de Grouchy & Françoise Chavin-Colin

  2. U. 173 I.N.S.E.R.M., Hôpital Necker-Enfants-Malades 149, rue de Sèvres, F-75743, Paris Cedex 15, France

    Catherine Turleau, J. de Grouchy & Françoise Chavin-Colin

  3. Clinique Chirurgicale Infantile, Hôpital Necker-Enfants-Malades, France

    Claire Nihoul-Fékété

  4. Service d'Ophtalmologie, Hôpital Necker-Enfants-Malades, France

    J. L. Dufier

  5. Institut de Pathologie Moléculaire, C.H.U. Cochin, Paris, France

    Claudine Junien

Authors
  1. Catherine Turleau
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  2. J. de Grouchy
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  3. Claire Nihoul-Fékété
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  4. J. L. Dufier
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  5. Françoise Chavin-Colin
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  6. Claudine Junien
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Turleau, C., de Grouchy, J., Nihoul-Fékété, C. et al. Del11p13/nephroblastoma without aniridia. Hum Genet 67, 455–456 (1984). https://doi.org/10.1007/BF00291410

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  • DOI: https://doi.org/10.1007/BF00291410

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