Summary
An 8-year-old male with mental retardation, speech difficulties, and minor congenital anomalies is presented. The clinical findings suggest the trisomy-8 syndrome. The karyotype indicates trisomy-8 mosaicism with trisomic as well as normal cell lines in blood lymphocytes.
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Caspersson, T., Lindstein, J., Zech, L., Buckton, K. E., Price, W. H.: Four patients with trisomy 8 identified by the fluorescence and Giemsa banding techniques. J. Med. Genet. 9, 1 (1972)
Grouchy, J. de, Turleau, C., Leonard, C.: Etude en fluorescence d'une trisomie C mosaïque, probablement 8: 46 xy/47xy? 8. Ann. Genet. (Paris) 14, 69 (1971)
Jacobsen, P., Mikkelsen, M., Rosleff, F.: The trisomy 8 syndrome: Report of two further cases. Ann. Genet. (Paris) 17, 87 (1974)
Kakati, S., Nihill, M., Sinha, A. K.: An attempt to establish trisomy 8 syndrome. Humangenetik 19, 293 (1973)
Laurent, C., Robert, J. M., Grambert, J., Dutrillaux, B.: et cytogénétiques de deux adultes trisomiques C en mosaïque. Individualisation du chromosome surnuméraire par la technique moderne de dénaturation. 47xy?8+. Lyon Med. 226, 827 (1971)
Riccardi, V. M.: Trisomy 8: An international study of 70 patients. Birth Defects 13, 171 (1977)
Rodewald, A., Zankel, H., Wirschenath, H., Borkowsky-Fehr, B.: Dermatoglyphic pattern in trisomy 8 syndrome. Clin. Genet. 12, 28 (1977)
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Silengo, M.C., Davi, G., Crua, G. et al. Trisomy-8 mosaicism: Report of a case. Hum Genet 42, 323–326 (1978). https://doi.org/10.1007/BF00291314
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DOI: https://doi.org/10.1007/BF00291314