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 21q22.2→qter is not compatible with the presence of the gene dosage effect in the monosomic state.
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Beauchamp, C., Fridovich, I.: Superoxide dismutase: improved assays and an assay applicable to acrylamide gels. Anal. Biochem. 44, 276–287 (1971)
Davis, J. G., Jenkins, E. C., Klinger, H. P., Weed, R. G.: A child with presumptive monosomy 21 (45,XY,-21) in a family in which some members are Gq-. Cytogenet. Cell Genet. 17, 65–77 (1976)
Dziuba, P., Dziekanowska, D., Hübner, H.: A female infant with monosomy 21. Hum. Genet. 31, 351–353 (1976)
Eriksson, A. W., Frants, R. R., Jongbloet, P. H.: Quantitative immunological studies on cytoplasmic superoxide dismutase: High concentration in red cells of Down syndrome [Abstr.]. Am. J. Hum. Genet. 27, 33A (1975)
Frants, R. R., Eriksson, A. W., Jongbloet, P. H., Hamers, H. J.: Superoxide dismutase in Down syndrome. Lancet 1975 II, 42–43
Fryns, J. P., D'Hondt, F., Goddeeris, P., Van den Berghe, H.: Full monosomy 21: A clinically recognizable syndrome? Hum. Genet. 37, 155–159 (1977)
Gilles, L., Ferradini, C., Foos, J., Pucheault, J., Allard, D., Sinet, P. M., Jerome, H.: The estimation of red cell superoxide dismutase activity by pulse radiolysis in normal and trisomic 21 subjects. FEBS Lett. 69, 55–58 (1976)
Itano, H. A., Fogarty, W. M., Alford, W. C.: The molar extinction coefficient of cyanmet-hemoglobin as determined by carbon analysis. Am. J. Clin. Pathol. 55, 135–140 (1971)
Kedziora, J., Rozynkowa, D., Kopff, M., Jeske, J.: Indophenol-oxidase in patients with Down's syndrome due to simple trisomy and to translocation 21/22. Hum. Genet. 34, 9–12 (1976)
McKusick, V. A., Ruddle, F. H.: The status of the gene map of the human chromosomes. At least one gene on each chromosome of man is known; some chromosomes are extensively mapped. Science 196, 390–405 (1977)
Sichitiu, S., Sinet, P. M., Lejeune, J., Frézal, J.: Surdosage de la forme dimérique de l'indo-phenoloxydase dans la trisomie 21, secondaire au surdosage génique. Humangenetik 23, 65–72 (1974)
Sinet, P. M., Allard, D., Lejeune, J., Jérôme, H.: Augmentation d'activité de la superoxyde dismutase érythrocytaire dans la trisomie pour le chromosome 21. C. R. Acad. Sci. [D](Paris) 278, 3267–3270 (1974)
Sinet, P. M., Couturier, J., Dutrillaux, B., Poissonnier, M., Raoul, O., Rethoré, M. O., Allard, D., Lejeune, J., Jérôme, H.: Trisomie 21 et superoxyde dismutase-1 (IPO-A). Tentative de localisation sur la sous-bande 21q22.1. Exp. Cell Res. 97, 47–55 (1976)
Tan, Y. H., Tischfield, J., Ruddle, F. H.: The linkage of genes for the human interferon-induced antiviral protein and indophenol oxidase-B traits to chromosome G-21. J. Exp. Med. 137, 317–330 (1973)
Warren, R. J., Rimoin, D. L.: The G-deletion syndromes. J. Pediatr. 77, 658–663 (1970)
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Yamamoto, Y., Ogasawara, N., Gotoh, A. et al. A case of 21q-syndrome with normal SOD-1 activity. Hum Genet 48, 321–327 (1979). https://doi.org/10.1007/BF00272832
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DOI: https://doi.org/10.1007/BF00272832