Chromosome instability with bleomycin and x-ray hypersensitivity in a boy with Nijmegen breakage syndrome

American Journal of Medical Genetics

Volumn 70, Issue 1, 1997, Pages 24-27

  Pérez Vera, Patricia ^a   Angel, Ariadna González Del ^a   Molina, Bertha ^a   Gómez, Laura ^a   Frías, Sara ^a   Gatti, Richard A ^b   Carnevale, Alessandra ^a  

^a INSTITUTO NACIONAL DE PEDIATRÍA   (Mexico)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

ataxia telangiectasia; bleomycin; chromosome instability; Nijmegen syndrome

Indexed keywords

BLEOMYCIN;

ARTICLE; ATAXIA TELANGIECTASIA; CASE REPORT; CHEMOSENSITIVITY; CHILD; CHROMOSOME BREAKAGE; CHROMOSOME REARRANGEMENT; GENETIC STABILITY; HUMAN; MALE; MICROCEPHALY; PRIORITY JOURNAL; RADIOSENSITIVITY; SHORT STATURE; X RAY;

ATAXIA; ATAXIA TELANGIECTASIA;

EID: 0030997558     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970502)70:1<24::AID-AJMG5>3.0.CO;2-R     Document Type: Article

References (17)

1. Barbi G, Scheres JMJC, Schindler D, Taalman RDFM, Rodens K, Mehnert K, Müller M, Seyschab H (1991): Chromosome instability and X-ray hypersensitivity in a microcephalic and growth-retarded child. Am J Med Genet 40:44-50.
2. Chrzanowska KH, Kleijer WJ, Krajewska-Walasek M, Bialecka M, Gutkowska A, Goryluk-Kozakiewics B, Michalkiewicz J, Stachowski J, Gregorek H, Lysón-Wojciechowska G, Janowicz W, Józwiak S (1995): Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: The Nijmegen breakage syndrome. Am J Med Genet 57:462-471.
3. Curry CJR, Tsai J, Hutchinson HT, Jaspers NGJ, Wara D (1989): AT Fresno: A phenotype of ataxia-telangiectasia with the Nijmegen breakage syndrome. Am J Hum Genet 43:270-275.
4. De Wit J, Jaspers NGJ, Bootsma D (1981): The rate of DNA synthesis in normal human and ataxia telangiectasia cells after exposure to X-irradiation. Mutat Res 80:211-226.
5. Huo YK, Wang Z, Hong J-H, Chessa L, McBride WH, Perlman SL, Gatti RA (1994): Radiosensitivity of ataxia-telangiectasia, X-linked agamma-globulinemia, and related syndromes using a modified colony survival assay. Cancer Res 54:2544-2547.
6. Jaspers NGJ, Taalman DFM, Baan C (1988): Patients with an inherited syndrome characterized by immunodeficiency, microcephaly, and chromosomal instability: Genetic relationship to ataxia-telangiectasia. Am J Hum Genet 42:66-73.
7. Li MJ, Shiraishi Y (1990): A unique human mutant B-lymphoblastoid cell line (ataxia telangiectasia) which exhibits increased sister-chromatid exchange retaining hypersensitivity to neocarzinostatin and bleomycin. Mutat Res 230:167-175.
8. Painter RB, Young BR (1980): Radiosensitivity in ataxia telangiectasia: A new explanation. Proc Natl Acad Sci USA 77:7315-7317.
9. Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, Tagle DA, Smith S, Uziel T, Sfez S, Ashkenazi M, Pecker I, Frydman M, Harnik R, Patanjali SR, Simmons A, Clines GA, Sartiel A, Gatti RA, Chessa L, Sanal O, Lavin MF, Jaspers NGJ, Taylor AMR, Arlett CF, Miki T, Weissman SM, Lovett M, Collins FS, Shiloh Y (1995): A single ataxia-telangiectasia gene with a product similar to PI-3 kinase. Science 268: 1749-1753.
10. Seemanová E (1990): An increased risk for malignant neoplasms in heterozygotes for a syndrome of microcephaly, normal intelligence, growth retardation, remarkable face, immunodeficiency and chromosomal instability. Mutat Res 238:321-324.
11. Stumm M, Gatti RA, Reis A, Udar N, Chrzanowska K, Seemanová E, Sperling K, Wegner RD (1995): The ataxia-telangiectasia-variant genes 1 and 2 are distinct from the ataxia-telangiectasia gene on chromosome 11q23.1. Am J Hum Genet 57:960-962.
12. Taalman RDFM, Jaspers NGJ, Scheres JMJC, de Wit J, Hustinx TWJ (1983): Hypersensitivity to ionizing radiation, in vitro, in a new chromosomal breakage disorder, the Nijmegen breakage syndrome. Mutat Res 112:23-32.
13. Taalman RDFM, Hustinx TWJ, Weemaes CMR, Seemanová E, Schmidt A, Passarge E, Scheres JMJC (1989): Further delineation of the Nijmegen breakage syndrome. Am J Med Genet 32:425-431.
14. Taylor AMR, Harnden DG, Arlett CF, Harcourt SA, Lehman AR, Stevens S, Bridges BA (1975): Atasia telangiectasia: A human mutation with abnormal radiation sensitivity. Nature 258:427-429.
15. Taylor AMR, Rosney CM, Campbell JB (1979): Unusual sensitivity of ataxia telangiectasia cells to bleomycin. Cancer Res 39:1046-1050.
16. Weemaes CMR, Hustinx TWJ, Scheres JMJC, van Munster PJJ, Bakkeren JAJM, Taalman RDFM (1981): A new chromosomal instability syndrome. Acta Paediatr Scand 70:557-562.
17. Weemaes CMR, Smeets DFCM, Burgt CJAM (1994): Nijmegen breakage syndrome: A progress report. Int J Radiat Biol 66:185-188.