15
Views
56
CrossRef citations to date
0
Altmetric
Original Article

Nijmegen Breakage Syndrome: A Progress Report

, &
Pages S185-S188 | Received 25 May 1994, Accepted 30 Jun 1994, Published online: 03 Jul 2009

References

  • Aurias A., Dutrillaux B., Lejeune J. High frequencies of inversions and translocations of chromosomes 7 and 14 in A-T. Mutation Research 1980; 69: 369–374
  • Barbi G., Scheres J.M.J.C., Schindler D., Taalman R.D.F.M., Rodens K., Mehnert K., Muller M., Seyschab H. Chromosome instability and X-ray hypersensitivity in a microcephalic and growth-retarded child. American Journal of Medical Genetics 1991; 40: 44–50
  • Bocian E., Obersztyn E., Borowska B. Translocation t(X;14) (q28;q11·2) in a patient with clinical symptoms of Nijmegen Breakage Syndrome. 3rd Annual Meeting of the German Society of Human Genetics, UlmGermany, 1991; 169–169, (Abs)
  • Chrzanowska K., Krajewska-Walasek M., Bialecka M., Gutkowska A., Lyson-Wojcicchowska G., Michalkiewicz J., Grogorek H. A report on patients with an inherited syndrome characterized by microcephaly, growth and developmental retardation, chromosome instability and immunodeficiency. Genetic Counseling 1993; 5: 100–100, (Abs)
  • Conley M.E., Spinner N.B., Emanuel B.S., Nowell P.C., Nichols W.W. A chromosome breakage syndrome with profound immunodeficiency. Blood 1986; 67: 1251–1256
  • Curry C.J.R., Tsai J., Hutchinson H.T., Jaspers N.G.J., Wara D., Gatti R.A. A-T-Fresno: a phenotype linking ataxia-telangiectasia with the Nijmegen Breakage Syndrome. American Journal of Human Genetics 1989; 45: 270–275
  • Gatti R.A. Localising the gene for ataxia-telangiectasia in a human model for inherited cancer susceptibility. Advances in Cancer Research 1991; 56: 77–104
  • Heppell A., Butterworth S.V., Hollis R.J., Kennaugh A.A., Beatty D.W., Taylor A.M.R. Breakage of the T cell receptor chain locus in non malignant clones from patients with ataxia-telangiectasia. Human Genetics 1988; 79: 360–364
  • Hustinx T.W.J., Scheres J.M.J.C., Weemaes C.M.R., Ter Haar B.G.A., Janssen A.H. Karyotype instability with multiple 7/14 and 7/7 rearrangements. Human Genetics 1979; 49: 199–208
  • Jaspers N.G.J., Taalman R.D.F.M., Baan C. Patients with an inherited syndrome characterized by immunodeficiency, microcephaly and chromosomal instability: genetic relationship with ataxia-telangiectasia. American Journal Human Genetics 1988; 42: 66–73
  • Kojis T.L., Schreck R.R., Gatti R.A., Sparkes R.S. Tissue specificity of chromosomal rearrangements in ataxia-telangiectasia. Human Genetics 1989; 83: 347–352
  • Seemanova E., Passarge E., Beneskova D., Houstek J., Kasal P., Sevcikova M. Familial micro-cephaly with normal intelligence, immunodeficiency and risk for lymphoreticular malignancies: a new auto-somal recessive disorder. American Journal Medical Genetics 1985; 20: 639–648
  • Spector B.D., Filipovich A.H., Perry G.S., III, Kersey J.H. Epidemiology of cancer in ataxia-telangiectasia. Ataxia-Telangiectasia. A Cellular and Molecular Link Between Cancer, Neuropathology and Immune Deficiency, B.A. Bridges, D.G. Harnden. Wiley, New York 1982; 103–138, In
  • Stoppa-Lyonet D., Girault D., Ledeist F., Aurias A. Unusual T cell clones in a patient with Nijmegen Breakage Syndrome. Journal of Medical Genetics 1992; 29: 136–137
  • Taalman R.D.F.M., Hustinx T.W.J., Weemaes C.M.R., Seemanova E., Schmidt A.S., Passarge E., Scheres J.M.J.C. Further delineation of the Nijmegen Breakage Syndrome. American Journal Medical Genetics 1989; 32: 425–431
  • Taylor A.M.R. Ataxia-telangiectasia genes and predisposition to leukaemia, lymphoma and breast cancer. British Journal Cancer 1992; 66: 5–9
  • Weemaes C.M.R., Hustinx T.W.J., Scheres J.M.J.C., van Munster P.J.J., Bakkeren J.A.J.M., Taalman R.D.F.M. A new chromosomal instability disorder: the Nijmegen Breakage Syndrome. Acta Paediatrica Scandinavica 1981; 70: 557–564
  • Weemaes C.M.R., van de Kaa C., Wesseling P., Haraldsson A., Bakkeren J., Seemanova E., Schmidt A., Passarge E. Nijmegen breakage syndrome: clinical, immunological and pathological findings. Progress in Immune Deficiency III, H.M. Chapel, R.J. Levinsky, A.D.B. Webster. Royal Society of Medicine Services, London 1991; 191–193, In
  • Wegner R.D., Metzger M., Hanefeld F., Jaspers N.G.J., Baan C., Magdorf K., Kunze J., Sperling K. A new chromosome instability disorder confirmed by complementation studies. Clinical Genetics 1988; 33: 20–32

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.