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Normal superoxide dismutase-1 (SOD-1) activity with deletion of chromosome band 21q21 supports localization of SOD-1 locus to 21q22

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Summary

The gene for superoxide dismutase-1 (SOD-1) is clearly on chromosome 21, although there is disagreement on the precise band location of SOD-1 on the long (q) arm of number 21. We report a patient with normal superoxide dismutase-1 (SOD-1) activity and an interstitial deletion of chromosome 21 resulting in monosomy for band q21. His phenotype is characterized by moderate mental retardation, a long narrow face, high and arched palate, cardiac murmur, undescended testes, and long hyperflexible extremities. The normal SOD-1 activity supports localization of this enzyme to 21q22.1.

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Authors and Affiliations

  1. Division of Medical Genetics, Department of Medicine, University of California, Los Angeles (UCLA) School of Medicine, 90024, Los Angeles, CA, USA

    E. A. Wulfsberg, Ivana J. Klisak & R. S. Sparkes

  2. Department of Pediatrics, University of California, Los Angeles (UCLA) School of Medicine, 90024, Los Angeles, CA, USA

    E. A. Wulfsberg & R. S. Sparkes

  3. Department of Psychiatry, University of California, Los Angeles (UCLA) School of Medicine, 90024, Los Angeles, CA, USA

    E. A. Wulfsberg & R. S. Sparkes

  4. Tri-Counties Regional Center, 93101, Santa Barbara, CA, USA

    R. E. Carrel

  5. Department of Obstetrics and Gynecology, University of Southern California School of Medicine, 90033, Los Angeles, CA, USA

    T. J. O'Brien & J. A. Sykes

Authors
  1. E. A. Wulfsberg
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  2. R. E. Carrel
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  3. Ivana J. Klisak
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  4. T. J. O'Brien
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  5. J. A. Sykes
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  6. R. S. Sparkes
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Wulfsberg, E.A., Carrel, R.E., Klisak, I.J. et al. Normal superoxide dismutase-1 (SOD-1) activity with deletion of chromosome band 21q21 supports localization of SOD-1 locus to 21q22. Hum Genet 64, 271–272 (1983). https://doi.org/10.1007/BF00279408

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  • DOI: https://doi.org/10.1007/BF00279408

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