Skip to main content
Log in

Chromosomal abnormalities in ataxia-telangiectasia (Louis Bar's syndrome)

  • Original Investigations
  • Published:
Humangenetik Aims and scope Submit manuscript

Summary

The chromosomes in lymphocytes of 6 children with ataxia-telangiectasia have been studied. In 2 patients cell populations marked by abnormal chromosomes were found. Cytogenetic findings and IgA seem not to be strongly related.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  • Ferák, V., Benko, J., Čajkova, E.: Genetik der Ataxie-Teleangiectasie. Acta Genet. med. (Roma) 14, 57 (1965).

    Google Scholar 

  • Forteza Bover, G., Baguena Candela, R., Tortajada Marinez, M.: Citogenetica de las ascitis carcinomatosas en ginecologia. Rev. esp. Obstet. Ginec. 21, 301 (1964).

    Google Scholar 

  • German, J.: Human chromosomal breakage. J. Pediat. 72, 440 (1968).

    Google Scholar 

  • Gropp, A., Flatz, G.: Chromosome breakage and blastic transformation of lymphocytes in ataxia-telangiectasia. Humangenetik 5, 77 (1967).

    Google Scholar 

  • Grouchy, J. de, Vallée, G., Nava, C., Lamy, M.: Analyse chromosomique de cellules cancérenses et de cellules médullaires et sanguines irradiées «in vitro». Ann. Génét. 6, 9 (1963).

    Google Scholar 

  • Hecht, F., Koler, R. D., Rigas, D. A., Dahnke, G. S., Case, M. P., Tisdale, V., Miller, R. W.: Leukaemia and lymphocytes in ataxia-telangiectasia. Lancet 1966 II, 1193.

  • Lamy, M., Jammet, M.-L., Martin, E., Dejoux, B.: L'ataxie-telangiectasie. Arch. franç. Pédiat. 21, 645 (1964).

    Google Scholar 

  • Lampert, F.: Akute lymphoblastische Leukämie bei Geschwistern mit progressiver Kleinhirnataxie (Louis-Bar syndrome). Dtsch. med. Wschr. 94, 217 (1969).

    Google Scholar 

  • Leikin, S. L., Bazelon, M., Park, K. H.: In vitro lymphocyte transformation in ataxia telangiectasia. J. Pediat. 68, 477 (1966).

    Google Scholar 

  • Lévêque, B., Debauchez, Cl., Desbois, J.-C., Feingold, J., Barbet, J., Marie, J.: Les anomalies immunologiques et lymphocytaires dans le syndrome d'ataxie-télangiectasie. Sem. Hôp. Paris 42, 2709/717 (1966).

  • Maccarone Papalia, C., Mamoli, A.: Sulla sindrome atassia-teleangectasia (sindrome di Louis Bar). Minerva pediat. 19, 52 (1967).

    Google Scholar 

  • Peterson, R. D. A., Kelly, W. D., Good, R. A.: Ataxia-telangiectasia. Its association with a defective thymus, immunological deficiency disease, and malignancy. Lancet 1964 I, 1189.

  • Rosenthal, J. M., Markowitz, A. S., Medenis, R.: Immunologic incompetence in ataxia-telangiectasia. Amer. J. Dis. Child. 110, 69 (1965).

    Google Scholar 

  • Schuler, D., Gacs, G., Schöngut, L., Cserhati, E.: Lymphoblastic transformation in ataxia-telangiectasia. Lancet 1966 II, 753.

  • Shuster, J., Hart, Z., Stimson, C. W., Brough, A. J., Ponlik, M. D.: Ataxia telangiectasia with cerebellar tumor. Pediatrics 37, 776 (1966).

    Google Scholar 

  • Taleb, N., Tohmé, S., Ghostine, S., Barmada, B., Nahas, S.: Association d'une ataxie-télangiectasie avec une leucémie aigüe lymphoblastique. Presse méd. 77, 345 (1969).

    Google Scholar 

  • Utian, H. L., Plit, M.: Ataxia telangiectasia. J. Neurol. Neurosurg. Psychiat. 27, 38 (1964).

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Additional information

Supported by the Deutsche Forschungsgemeinschaft.

(Direktor: Prof. Dr. Dr. h. c. W. Lenz)

Rights and permissions

Reprints and permissions

About this article

Cite this article

Pfeiffer, R.A. Chromosomal abnormalities in ataxia-telangiectasia (Louis Bar's syndrome). Hum Genet 8, 302–306 (1970). https://doi.org/10.1007/BF00280328

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00280328

Keywords

Navigation