Normal superoxide dismutase-1 (SOD-1) activity with deletion of chromosome band 21q21 supports localization of SOD-1 locus to 21q22
Wulfsberg, E. A. ; Carrel, R. E. ; Klisak, Ivana J. ; O'Brien, T. J. ; Sykes, J. A. ; Sparkes, R. S.
Springer
Published 1983
Springer
Published 1983
| ISSN: |
1432-1203
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|---|---|
| Source: |
Springer Online Journal Archives 1860-2000
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| Topics: |
Biology
Medicine
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| Notes: |
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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| Type of Medium: |
Electronic Resource
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| URL: |