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

Autor: Wulfsberg, E. A., Carrel, R. E., Klisak, Ivana J., O'Brien, T. J., Sykes, J. A., Sparkes, R. S.
Zdroj: Human Genetics; September 1983, Vol. 64 Issue: 3 p271-272, 2p
Abstrakt: 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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