1. An improved spectrophotometric can be present in cases with a r21.9 Our patient had malformations similar to those of Rieger's syndrome, which shows dominant inheritance10 and a great variability of clinical expression. A varieLy of associated malformations including congenital dislocation of the hip and anal malformations have been reported in isolated cases.1' Chromosomal investigations have been reported in very few cases (table). assay for superoxide dismutase based on epinephrine autooxidation;Sun, M.; Zigman, S.;Anal Biochem,1978
2. Down syndrome due to partial trisomy 21q;Cervenka, J.; Gorlin, R.J.; Djavadi, R.G.;Clin Genet,1977
3. Moderate Down's syndrome in three siblings having partial trisomy21q22.2-', pter and therefore no SOD-1 excess;Habedank, M.; Rodewald, A.;Hum Genet,1982
4. Karyotype 45, XX,-21/ 46, XX,21qin an infant with symptoms of G-deletion syndrome;Mikkelsen, M.; Vestermark, S.;I. J Med Genet,1974
5. A case of 21qsyndrome with normal SOD-1 activity;Yamamoto, Y.; Ogasawara, N.; Gotoh, A.; Komiya, H.; Nakai, H.; Kuroki, Y.;Hum Genet,1979