Abstract:
: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.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Wulfsberg EA,Carrel RE,Klisak IJ,O'Brien TJ,Sykes JA,Sparkes RSdoi
10.1007/BF00279408subject
Has Abstractpub_date
1983-01-01 00:00:00pages
271-2issue
3eissn
0340-6717issn
1432-1203journal_volume
64pub_type
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