Variable response to the diepoxybutane test in two dizygotic twins with Fanconi's anemia and flow cytometry for diagnosis confirmation

Pediatric Hematology and Oncology

Volumn 15, Issue 1, 1998, Pages 45-54

  Toraldo, R ^a   Canino, G ^a   Tolone, C ^a   D'Avanzo, M ^a   Porfirio, B ^b   Hoehn, H ^c   Schroeder Kurth, T ^d   Pistoia, V ^e  

^a SECOND UNIVERSITY OF NAPLES   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

^c UNIVERSITY OF WÜRZBURG   (Germany)

^d UNIVERSITY OF HEIDELBERG   (Germany)

^e UNIVERSITY OF GENOA   (Italy)

Author keywords

Diepoxybutane test (DEB test); Fanconi's anemia; Flow cytometry

Indexed keywords

BUTADIENE DIEPOXIDE;

ARTICLE; CASE REPORT; DIAGNOSTIC TEST; DIZYGOTIC TWINS; FANCONI ANEMIA; FLOW CYTOMETRY; HUMAN; HUMAN CELL; MALE; SCHOOL CHILD;

EID: 0031883844     PISSN: 08880018     EISSN: None     Source Type: Journal    
DOI: 10.3109/08880019809009507     Document Type: Article

References (19)

1. Alter BP. Fanconi's anaemia and its variability. Br J Haematol. 1993;85:9-10.
2. Ishida R, Buchwald M. Susceptibility of Fanconi's anemia lymphoblasts to DNA-cross-linking and alkylating agents. Cancer Res. 1982;42:4000-4006.
3. Auerbach AD, Rogatko A, Schroeder TM. International Fanconi Anemia Registry: relation of clinical symptoms to diepoxybutane sensitivity. Blood. 1989;73:391-396.
4. Joenje H, Lo ten Foe JR, Oostra AB, et al. Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtype. Blood. 1995;86:2156-2160.
5. Verlander PC, Lin JD, Udono MU, et al. Mutation analysis of the Fanconi anemia gene FACC. Am J Hum Genet. 1994;54:595-601.
6. Yamashita T, Barber DL, Zhu Y, Wu N, D'Andrea AD. The Fanconi anemia polypeptide FACC is localized to the cytoplasm. Proc Natl Acad Sci USA. 1994;91:6712-6716.
7. Segal GM, Magenis RE, Brown M, et al. Repression of Fanconi anemia gene (FACC) expression inhibits growth of hematopoietic progenitor cells. J Clin Invest. 1985;94:846-852.
8. Auerbach AD, Sagi M, Adler B. Fanconi anemia: prenatal diagnosis in 30 fetuses at risk. Pediatrics. 1985;76:794-800.
9. Schroeder-Kurth TM, Zhu TH, Hong Y, Westphal I. Variation in cellular sensitivities among Fanconi anemia patients, non-Fanconi anemia patients, their parents and siblings, and control probands, In: Fancont Anemia. Clinical, Cytogenetic and Experimental Aspects. Berlin: Springer-Verlag; 1989:105-135.
10. Giampietro PF, Adler-Brecher B, Verlander PC, Pavlakis SG, Davis JG, Auerbach AD. The need for more accurate and timely diagnosis in Fanconi anemia: a report from the International Fanconi Anemia Registry. Pediatrics. 1993;91:1116-1120.
11. Rabinovitch PS, Kubbies M, Chen YC, Schindler D, Hoehn H. BrdU-Hoechst flow cytometry: a unique tool for quantitative cell cycle analysis Exp Cell Res. 1988;174:309-316.
12. Schindler D, Kubbies M, Hoehn H, Schinzel A, Rabinovitch PS. Presymptomatic diagnosis of Fanconi's anaemia. Lancet. 1985;1:937.
13. Pistoia V, Corcione A, Pasino M, et al. Chronic childhood neutropenia: studies on the in vitro clonogenicity of bone marrow myeloid progenitors. Acta Haematol. 1991;86:61-69.
14. Kubbies M, Schindler D, Hoehn H, Rabinovitch PS. BrdU-Hoechst flow cytometry reveals regulation of human lymphocyte growth by donor-age-related growth fraction and transition rate. J Cell Physiol. 1985;125:229-232.
15. Shahidi NT. Androgens and erythropoiesis. N Engl J Med. 1973;289:72-75.
16. Chan HSL, Saunders EF, Freedman MH. Diamond-Blackfan syndrome. II. In vitro corticosteroid effect on erythropoiesis. Pediatr Res. 1982;16:477-478.
17. Claustres M, Margueritte G, Sultan C. In vitro CFU-E and BFU-E responses to androgens in bone marrow from children with hypoproliferative anemia: a possible therapeutic assay. Eur J Pediatr. 1986;144:467-471.
18. Halperin DS, Estrov Z, Freedman MH. Diamond-Blackfan anemia: promotion of marrow erythropoiesis in vitro by recombinant interleukin-3. Blood. 1989;73:1168-1174.
19. Tsai PH, Arkin S, Lipton JM. An intrinsic progenitor defect in Diamond-Blackfan anemia. Br J Haematol. 1989;73:112-120.