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Mosaicism for an additional partial chromosome 8: 46,XX/47,XX+der(8)(p21→qter)

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Summary

Report on mosaicism of an additional deleted chromosome 8 in a 12-year-old girl. She exhibits several typical but minor features of the trisomy-8 syndrome. Her IQ is 77 (Hawik).

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References

  • Kosztolanyi, G., Bühler, E. M., Elmiger, P., Stalder, G. R.: Trisomy 8 mosaicism. A case report and a proposed list of the clinical features. Eur. J. Pediatr. 123, 293–300 (1976)

    Google Scholar 

  • Nakagome, Y., Warkany, J., Rubinstein, J. H.: Mental retardation, absence of patellae, and other malformations with chromosomal mosaicism. J. Pediatr. 72, 695–697 (1968)

    Google Scholar 

  • Pfeiffer, R. A.: Trisomy 8. In: New Chromosomal Syndromes (J. J. Yunis, ed.), pp. 197–218. New York: Academic Press 1977

    Google Scholar 

  • Réthoré, M.-O., Aurias, A., Couturier, J., Dutrillaux, B., Prieur, M., Lejeune, J.: Chromosome 8: trisomie complète et trisomies ségmentaires. Ann. Genet. (Paris) 20, 5–11 (1977)

    Google Scholar 

  • Sinet, P.-M., Bresson, J.-L., Couturier, J., Laurent, C., Prieur, M., Réthoré, M.-O., Taillemite, J.-L., Toudic, D., Jérôme, H., Lejeune, J.: Localisation probable du gène de la glutathion reductase (EC 1.6.4.2) sur la bande 8p21. Ann. Genet. (Paris) 20, 13–17 (1977)

    Google Scholar 

  • Stenbjerg, S., Husted, S., Bernsen, A., Jacobsen, P., Nielsen, J., Rasmussen, K.: Coagulation studies in patients with trisomy 8 syndrome. Ann. Genet. (Paris) 18, 241–242 (1975)

    Google Scholar 

  • Warkany, J., Rubinstein, J. H., Soukup, S. W., Curless, M. C.: Mental retardation, absence of patellae, and other malformations with chromosomal mosaicism. J. Pediatr. 61, 803–812 (1962)

    Google Scholar 

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Authors and Affiliations

  1. Abteilung für Humangenetik der Medizinischen Hochschule Lübeck, Ratzeburger Allee 160, D-2400, Lübeck, Federal Republic of Germany

    R. A. Pfeiffer, E. Kessel, E. Rathgen & M. Kulenkampff

  2. Herrlichkeit 24, D-2818, Syke, Federal Republic of Germany

    T. Nehring

Authors
  1. R. A. Pfeiffer
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  2. E. Kessel
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  3. E. Rathgen
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  4. M. Kulenkampff
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  5. T. Nehring
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Pfeiffer, R.A., Kessel, E., Rathgen, E. et al. Mosaicism for an additional partial chromosome 8: 46,XX/47,XX+der(8)(p21→qter). Hum Genet 44, 207–212 (1978). https://doi.org/10.1007/BF00295416

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  • DOI: https://doi.org/10.1007/BF00295416

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