A case of 21q-syndrome with normal SOD-1 activity

  title={A case of 21q-syndrome with normal SOD-1 activity},
  author={Yoshifumi Yamamoto and Nobuaki Ogasawara and Akiko Gotoh and Hirofumi Komiya and Hiroshi Nakai and Yoshikazu Kuroki},
  journal={Human Genetics},
A female infant with del(21)(pter→q22.1-2:) constitution identified by G, Q, and R banding is reported. She had marked mental and physical retardation, generalized hypertonia, microphthalmia with persistent hypoplastic primary vitreous, blepharochalasia, high nasal bridge, micrognathia, malformed ears with preauricular pits, and overlying fingers. The assay for superoxide dismutase-1 (SOD-1) activity in the patient revealed a normal value and it was suggested that the gene locus for SOD-1 in… CONTINUE READING


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