A case of 21q-syndrome with normal SOD-1 activity |
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| Authors: | Yoshifumi Yamamoto N. Ogasawara A. Gotoh H. Komiya H. Nakai Y. Kuroki |
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| Affiliation: | (1) Division of Medical Genetics, Kanagawa Children's Medical Center, Mutsukawa 2-138-4, 232 Minami-ku, Yokohama, Japan;(2) Division of Neonatology, Kanagawa Children's Medical Center, Kanagawa, Japan;(3) Department of Biochemistry, Institute for Developmental Research Aichi Prefectural Colony, Kamiya-chyo, 480-3 Kasugai, Aichi, Japan |
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| Abstract: | Summary 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 21q22.2qter is not compatible with the presence of the gene dosage effect in the monosomic state. |
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