Summary
Three mentally retarded siblings with moderate stigmata of Down's syndrome were found to have a partial trisomy 21q22.2→qter resulting from a maternal translocation t(4q+;21q-). By the exclusion of any excess of SOD-1 in them, we can confirm the nonessentiality of the sub-band 21q22.1 and of the SOD-1 excess for most of the Down's syndrome stigmata including the mental retardation. However, the sub-band 21q22.1 in triplicate might be required for the completion of the full syndrome, as for example is shown by the incomplete dermatoglyphic pattern on the palms in the patients.
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Habedank, M., Rodewald, A. Moderate Down's syndrome in three siblings having partial trisomy 21q22.2→qter and therefore no SOD-1 excess. Hum Genet 60, 74–77 (1982). https://doi.org/10.1007/BF00281269
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DOI: https://doi.org/10.1007/BF00281269