Diagnosis of fanconi anemia: Chromosomal breakage analysis

Anemia

Volumn 2012, Issue , 2012, Pages

  Oostra, Anneke B ^a   Nieuwint, Aggie W M ^a   Joenje, Hans ^a   De Winter, Johan P ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84873826884     PISSN: 20901267     EISSN: 20901275     Source Type: Journal    
DOI: 10.1155/2012/238731     Document Type: Article

References (43)

1. Auerbach A. D., Fanconi anemia and its diagnosis. Mutation Research 2009 668 1-2 4 10 2-s2.0-67650451108 10.1016/j.mrfmmm.2009.01.013
2. Giampietro P. F., Adler-Brecher B., Verlander P. C., Pavlakis S. G., Davis J. G., Auerbach A. D., The need for more accurate and timely diagnosis in Fanconi anemia: a report from the International Fanconi Anemia Registry. Pediatrics 1993 91 6 1116 1120 2-s2.0-0027298257 (Pubitemid 23165787)
3. Giampietro P. F., Verlander P. C., Davis J. G., Auerbach A. D., Diagnosis of Fanconi anemia in patients without congenital malformations: an International Fanconi Anemia Registry Study. American Journal of Medical Genetics 1997 68 1 58 61 (Pubitemid 27023842)
4. Alter B. P., Cancer in Fanconi anemia, 1927-2001. Cancer 2003 97 2 425 440 2-s2.0-0037439356 10.1002/cncr.11046 (Pubitemid 36133810)
5. Alter B. P., Bone marrow failure: a child is not just a small adult (but an adult can have a childhood disease). Hematology 2005 96 103 2-s2.0-34548221847
6. Alter B. P., Joenje H., Oostra A. B., Pals G., Fanconi anemia: adult head and neck cancer and hematopoietic mosaicism. Archives of Otolaryngology 2005 131 7 635 639 2-s2.0-23044466578 10.1001/archotol.131.7.635 (Pubitemid 41058056)
7. Nakanishi K., Taniguchi T., Ranganathan V., New H. V., Moreau L. A., Stotsky M., Mathew C. G., Kastan M. B., Weaver D. T., D'Andrea A. D., Interaction of FANCD2 and NBS1 in the DNA damage response. Nature Cell Biology 2002 4 12 913 920 2-s2.0-4544280871 10.1038/ncb879 (Pubitemid 35469420)
8. Gennery A. R., Slatter M. A., Bhattacharya A., Barge D., Haigh S., O'Driscoll M., Coleman R., Abinun M., Flood T. J., Cant A. J., Jeggo P. A., The clinical and biological overlap between Nijmegen Breakage Syndrome and Fanconi anemia. Clinical Immunology 2004 113 2 214 219 2-s2.0-4644221353 10.1016/j.clim.2004.03.024 (Pubitemid 39296855)
9. New H. V., Cale C. M., Tischkowitz M., Jones A., Telfer P., Veys P., D'Andrea A., Mathew C. G., Hann I., Nijmegen breakage syndrome diagnosed as fanconi anaemia. Pediatric Blood and Cancer 2005 44 5 494 499 2-s2.0-18044385866 10.1002/pbc.20271 (Pubitemid 40614498)
10. van der Lelij P., Oostra A. B., Rooimans M. A., Joenje H., de Winter J. P., Diagnostic overlap between Fanconi anemia and the cohesinopathies: roberts syndrome and Warsaw Breakage Syndrome. Anemia 2010 2010 7 10.1155/2010/565268 565268
11. Bakhshi S., Joenje H., Schindler D., Oostra A., Mohamed A. N., Madgy D., Ravindranath Y., Abella E., A case report of a patient with microcephaly, facial dysmorphism, mitomycin-c-sensitive lymphocytes, and susceptibility to lymphoma. Cancer Genetics and Cytogenetics 2006 164 2 168 171 2-s2.0-31144474903 10.1016/j.cancergencyto.2005.07.025 (Pubitemid 43129766)
12. Kwee M. L., van der Kleij J. M., van Essen A. J., An atypical case of Fanconi anemia in elderly sibs. American Journal of Medical Genetics 1997 68 3 362 366 (Pubitemid 27081822)
13. Vaz F., Hanenberg H., Schuster B., Barker K., Wiek C., Erven V., Neveling K., Endt D., Kesterton I., Autore F., Fraternali F., Freund M., Hartmann L., Grimwade D., Roberts R. G., Schaal H., Mohammed S., Rahman N., Schindler D., Mathew C. G., Mutation of the RAD51C gene in a Fanconi anemia-like disorder. Nature Genetics 2010 42 5 406 409 2-s2.0-77951747926 10.1038/ng.570
14. Kwee M. L., Poll E. H. A., van de Kamp J. J. P., de Koning H., Eriksson A. W., Joenje H., Unusual response to bifunctional alkylating agents in a case of Fanconi anaemia. Human Genetics 1983 64 4 384 387 (Pubitemid 13006063)
15. Lo Ten Foe J. R., Kwee M. L., Rooimans M. A., Oostra A. B., Veerman A. J. P., Van Weel M., Pauli R. M., Shahidi N. T., Dokal I., Roberts I., Altay C., Gluckman E., Gibson R. A., Mathew C. G., Arwert F., Joenje H., Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance. European Journal of Human Genetics 1997 5 3 137 148 2-s2.0-12644293813 (Pubitemid 27356701)
16. Waisfisz Q., Morgan N. V., Savino M., De Winter J. P., Van Berkel C. G. M., Hoatlin M. E., Ianzano L., Gibson R. A., Arwert F., Savoia A., Mathew C. G., Pronk J. C., Joenje H., Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism. Nature Genetics 1999 22 4 379 383 2-s2.0-0032796554 10.1038/11956 (Pubitemid 29369531)
17. Gregory J. J., Wagner J. E., Verlander P. C., Levran O., Batish S. D., Eide C. R., Steffenhagen A., Hirsch B., Auerbach A. D., Somatic mosaicism in Fanconi anemia: evidence of genotypic reversion in lymphohematopoietic stem cells. Proceedings of the National Academy of Sciences of the United States of America 2001 98 5 2532 2537 2-s2.0-0035956959 10.1073/pnas.051609898 (Pubitemid 32209516)
18. Gross M., Hanenberg H., Lobitz S., Friedl R., Herterich S., Dietrich R., Gruhn B., Schindler D., Hoehn H., Reverse mosaicism in Fanconi anemia: natural gene therapy via molecular self-correction. Cytogenetic and Genome Research 2002 98 2-3 126 135 2-s2.0-0038361336 10.1159/000069805 (Pubitemid 37465006)
19. de Winter J. P., Joenje H., The genetic and molecular basis of Fanconi anemia. Mutation Research 2009 668 1-2 11 19 2-s2.0-67650500593 10.1016/j.mrfmmm.2008.11.004
20. Stoepker C., Hain K., Schuster B., Hilhorst-Hofstee Y., Rooimans M. A., Steltenpool J., Oostra A. B., Eirich K., Korthof E. T., Nieuwint A. W. M., Jaspers N. G. J., Bettecken T., Joenje H., Schindler D., Rouse J., De Winter J. P., SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype. Nature Genetics 2011 43 2 138 141 2-s2.0-79251632658 10.1038/ng.751
21. Kim Y., Lach F. P., Desetty R., Hanenberg H., Auerbach A. D., Smogorzewska A., Mutations of the SLX4 gene in Fanconi anemia. Nature Genetics 2011 43 2 142 146 2-s2.0-79251611165 10.1038/ng.750
22. Meetei A. R., Levitus M., Xue Y., Medhurst A. L., Zwaan M., Ling C., Rooimans M. A., Bier P., Hoatlin M., Pals G., De Winter J. P., Wang W., Joenje H., X-linked inheritance of Fanconi anemia complementation group B. Nature Genetics 2004 36 11 1219 1224 2-s2.0-10944239213 10.1038/ng1458
23. Sasaki M. S., Tonomura A., A high susceptibility of Fanconi's anemia to chromosome breakage by DNA cross linking agents. Cancer Research 1973 33 8 1829 1836 2-s2.0-0015891353
24. Auerbach A. D., Wolman S. R., Susceptibility of Fanconi's anaemia fibroblasts to chromosome damage by carcinogens. Nature 1976 261 5560 494 496 2-s2.0-0017118656
25. Moorhead P. S., Nowell P. C., Mellman W. J., Battips D. M., Hungerford D. A., Chromosome preparations of leukocytes cultured from human peripheral blood. Experimental Cell Research 1960 20 3 613 616 2-s2.0-0013663724
26. Auerbach A. D., Fanconi anemia diagnosis and the diepoxybutane (DEB) test. Experimental Hematology 1993 21 6 731 733 2-s2.0-0027861014 (Pubitemid 24215323)
27. Auerbach A. D., Dracopoli N. C., Haines J. L., Korf B. R., Moir D. T., Morton C. C., Seidman C. E., Seidman J. G., Smith D. R., Diagnosis of Fanconi anemia by Diepoxybutane Analysis. Current Protocols in Human Genetics 2003 Hoboken, NJ, USA John Wiley & Sons 8.7.1 8.7.15
28. Castella M., Pujol R., Callén E., Ramírez M. J., Casado J. A., Talavera M., Ferro T., Muñoz A., Sevilla J., Madero L., Cela E., Beléndez C., de Heredia C. D., Olivé T., de Toledo J. S., Badell I., Estella J., Dasí Á.., Rodríguez-Villa A., Gómez P., Tapia M., Molinés A., Figuera Á.., Bueren J. A., Surrallés J., Chromosome fragility in patients with Fanconi anaemia: diagnostic implications and clinical impact. Journal of Medical Genetics 2011 48 4 242 250 2-s2.0-79953678081 10.1136/jmg.2010.084210
29. Kaiser T. N., Lojewski A., Dougherty C., Flow cytometric characterization of the response of Fanconi's anemia cells to mitomycin C treatment. Cytometry 1982 2 5 291 297 2-s2.0-0020067168 (Pubitemid 12116973)
30. Bechtold A., Friedl R., Kalb R., Gottwald B., Neveling K., Gavvovidis I., Herterich S., Schindler D., Hoehn H., Prenatal exclusion/confirmation of fanconi anemia via flow cytometry: a pilot study. Fetal Diagnosis and Therapy 2006 21 1 118 124 2-s2.0-29144519318 10.1159/000089061 (Pubitemid 41803438)
31. Schindler D., Kubbies M., Hoehn H., Confirmation of Fanconi's anemia and detection of a chromosomal aberration (1Q12-32 triplication) via BRDU/Hoechst flow cytometry. American Journal of Pediatric Hematology/Oncology 1987 9 2 172 177 2-s2.0-0023204590 (Pubitemid 17079242)
32. Miglierina R., Le Coniat M., Gendron M., Berger R., Diagnosis of Fanconi's anemia by flow cytometry. Nouvelle Revue Francaise d'Hematologie 1990 32 6 391 393 2-s2.0-0025563826
33. Seyschab H., Friedl R., Sun Y., Schindler D., Hoehn H., Hentze S., Schroeder- Kurth T., Comparative evaluation of diepoxybutane sensitivity and cell cycle blockage in the diagnosis of fanconi anemia. Blood 1995 85 8 2233 2237 2-s2.0-0028950319
34. Timeus F., Crescenzio N., Saracco P., Leone L., Ponzio G., Ramenghi U., Cell cycle analysis in the diagnosis of Fanconi's anemia. Haematologica 2000 85 4 431 432 2-s2.0-0034038816 (Pubitemid 30318521)
35. Dutrillaux B., Aurias A., Dutrillaux A. M., The cell cycle of lymphocytes in Fanconi anemia. Human Genetics 1982 62 4 327 332 2-s2.0-0020307710 (Pubitemid 13117092)
36. Kubbies M., Schindler D., Hoehn H., Endogenous blockage and delay of the chromosome cycle despite normal recruitment and growth phase explain poor proliferation and frequent endomitosis in Fanconi anemia cells. American Journal of Human Genetics 1985 37 5 1022 1030 2-s2.0-0022353392 (Pubitemid 16224142)
37. Seyschab H., Sun Y., Friedl R., Schindler D., Hoehn H., G2 phase cell cycle disturbance as a manifestation of genetic cell damage. Human Genetics 1993 92 1 61 68 2-s2.0-0027213760 (Pubitemid 23258576)
38. Akkari Y. M. N., Bateman R. L., Reifsteck C. A., D'Andrea A. D., Olson S. B., Grompe M., The 4N cell cycle delay in Fanconi anemia reflects growth arrest in late S phase. Molecular Genetics and Metabolism 2001 74 4 403 412 2-s2.0-0035691754 10.1006/mgme.2001.3259 (Pubitemid 34084649)
39. Schindler D., Hoehn H., Wegner R. D., Flow cytometric testing for syndromes with chromosomal instability, aplastic anemia and related hematological disorders. Diagnostic Cytogenetics 1999 Heidelberg, Germany Springer 269 281
40. Miglierina R., Le Coniat M., Berger R., A simple diagnostic test for Fanconi anemia by flow cytometry. Analytical Cellular Pathology 1991 3 2 111 118 2-s2.0-0026026127
41. Brøgger A., Norum R., Hansteen I. L., Clausen K. O., Skårdal K., Mitelman F., Kolnig A. M., Strömbeck B., Nordenson I., Andersson G., Comparison between five Nordic laboratories on scoring of human lymphocyte chromosome aberrations. Hereditas 1984 100 2 209 218 2-s2.0-0021192368
42. Brogger A., The chromatid gap-a useful parameter in genotoxicology? Cytogenetics and Cell Genetics 1982 33 1-2 14 19 2-s2.0-0019980862 (Pubitemid 12038919)
43. Godthelp B. C., van Buul P. P. W., Jaspers N. G. J., Elghalbzouri- Maghrani E., van Duijn-Goedhart A., Arwert F., Joenje H., Zdzienicka M. Z., Cellular characterization of cells from the Fanconi anemia complementation group, FA-D1/BRCA2. Mutation Research 2006 601 1-2 191 201 2-s2.0-33749639069 10.1016/j.mrfmmm.2006.07.003 (Pubitemid 44540304)