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J Med Genet. 1974 December; 11(4): 393–398.
PMCID: PMC1013216

The trisomy 8 syndrome: two additional mosaic cases


Two patients with trisomy 8 mosaicism, confirmed by trypsin-Giemsa banding are described. While the majority of patients with this aneuploidy have been mosaics, the phenotypes of the complete and mosaic trisomies closely resemble each other. Mosaic trisomy 8 results in specific clinical findings which include skeletal dysplasia, particularly absent patellae, deep furrowing of the soles of the feet, and periarticular changes resulting in camptodactyly and progressive limitation of joint mobility.

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Selected References

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  • Bijlsma JB, Wijffels JC, Tegelaers WH. C8 trisomy mosaicism syndrome. Helv Paediatr Acta. 1972 Jul;27(3):281–298. [PubMed]
  • Caspersson T, Lindsten J, Zech L, Buckton KE, Price WH. Four patients with trisomy 8 identified by the fluorescence and Giemsa banding techniques. J Med Genet. 1972 Mar;9(1):1–7. [PMC free article] [PubMed]
  • de Grouchy J, Turleau C, Léonard C. Etude en fluorescence d'une trisomie C mosaique, probablement 8: 46,XY-47,XY,?8+. Ann Genet. 1971 Mar;14(1):69–72. [PubMed]
  • De la Chapelle A, Schröder J, Vuopio P. 8-Trisomy in the bone marrow. Report of two cases. Clin Genet. 1972;3(6):470–476. [PubMed]
  • Kakati S, Nihill M, Sinha AK. An attempt to establish trisomy 8 syndrome. Humangenetik. 1973 Sep 20;19(3):293–300. [PubMed]
  • Seabright M. A rapid banding technique for human chromosomes. Lancet. 1971 Oct 30;2(7731):971–972. [PubMed]

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