Nijmegen breakage syndrome

Journal of Medical Genetics

Volumn 33, Issue 2, 1996, Pages 153-156

  Van Der Burgt, Ineke ^a   Chrzanowska, Krystyna H ^b   Smeets, Dominique ^a   Weemaes, Corry ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

Author keywords

Ataxia telangiectasia; Nijmegen breakage syndrome

Indexed keywords

ALPHA FETOPROTEIN;

ARTICLE; ATAXIA TELANGIECTASIA; AUTOSOMAL RECESSIVE INHERITANCE; CANCER SUSCEPTIBILITY; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CLINICAL ARTICLE; CLINICAL FEATURE; CLINICAL IMMUNOLOGY; CONGENITAL MALFORMATION; CONTROLLED STUDY; CYTOLOGY; FEMALE; GROWTH RETARDATION; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; MALE; MICROCEPHALY; NIJMEGEN BREAKAGE SYNDROME; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RESPIRATORY TRACT INFECTION; SHORT STATURE;

EID: 0030022497     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.2.153     Document Type: Article

References (12)

1. Weemaes CMR, Hustinx TWJ, Scheres JMJC, van Munster PJJ, Bakkeren JAJM, Taalman RDFM. A new chromosomal instability disorder: the Nijmegen breakage syndrome. Acta Paediatr Scand 1981;70:557-64.
2. Seemanova E, Passarge E, Beneskova D, Houstek J, Kasal P, Sevcikova M. Familial microcephaly with normal intelligence, immunodeficiency and risk for lymphoreticular malignancies: a new autosomal recessive disorder. Am J Med Genet 1985;20:639-48.
3. Chrzanowska KH, Kleijer WJ, Krajewska-Walasek M, et al. Eleven Polish patients with microcephaly, immunodeficiency and chromosomal instability; the Nijmegen breakage syndrome. Am J Med Genet 1995;57:462-71.
4. Conley ME, Spinner MB, Emanuel BS, Nowell PC, Nichols WW. A chromosome breakage syndrome with profound immunodeficiency. Blood 1986;67:1251-6.
5. Wegner RD, Metzger M, Hanefeld F, et al. A new chromosome instability disorder confirmed by complementation studies. Clin Genet 1988;33:20-32.
6. Taalman RDFM, Hustinx TWJ, Weemaes CMR, et al. Further delineation of the Nijmegen breakage syndrome. Am J Med Genet 1989;32:425-31.
7. Curry CJR, Tsaj J, Hutchinson HT, Jaspers, NGJ, Wara D, Gatti RA. ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome. Am J Hum Genet 1989;45:270-5.
8. Barbi G, Scheres JMJC, Schindler D, et al. Chromosome instability and X-ray hypersensitivity in a microcephalic and growth-retarded child. Am J Med Genet 1991;40:44-50.
9. Bocian E, Obersztyn E, Borowska B. Translocation t(X;14) (q28;q11.2) in a patient with clinical symptoms of Nijmegen breakage syndrome. In Vogel W, Just W, eds. 3 Tagung der Geselschaft fur Humangenetik, Abstract. Ulm: Universitatsverlag Ulm, GmbH, 1991: 169.
10. Stoppa-Lyonet D, Girault D, Le Deist F, Aurias A. Unusual T cell clones in a patient with Nijmegen breakage syndrome. J Med Genet 1992;29:136-7.
11. Green AJ, Bames N, Billing CJ, Taylor AMR, Yates JRW. The Nijmegen breakage syndrome is not an allelic form of ataxia telangiectasia. J Med Genet 1995;32:149-50A.
12. Savitsky K, Bar-Shira A, Galid S, et al. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 1995;268:1749-53.