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  • Anderson, M.K. & Pederson–Bjergaard, J. (2000) Increased frequency of dicentric chromosomes in therapy related MDS and AML compared to de novo disease is significantly related to previous treatment with alkylating agents and suggests a specific susceptibility to chromosome breakage at the centromere. Leukaemia, 1, 105111.
  • Arseniev, L., Diedrich, H. & Link, H. (1996) Allogeneic bone marrow transplantation in a patient with Shwachman–Diamond syndrome. Annals of Hematology, 72, 8384.
  • Barrios, N., Kirkpatrick, D., Regueira, O., Wuttke, B., McNeil, J. & Humbert, J. (1991) Bone marrow transplantation in Shwachman–Diamond syndrome. British Journal of Haematology, 79, 337338.
  • Bennet, J.M., Catovsky, D., Daniel, M.T., Flandrin, G., Galton, D.A.G., Graldnick, H.R. & Sultan, D. (1982) Proposals for the classification of myelodysplastic syndromes. British Journal of Haematology, 51, 189199.
  • Bunin, N., Leahey, A. & Dunn, S. (1996) Related donor liver transplant for veno-occlusive disease following T-depleted unrelated donor bone marrow transplantation. Transplantation, 61, 664666.
  • Czepulkowski, B.H., Bhatt, B. & Rooney, D.E. (1992) Basic techniques for the preparation and analysis of chromosomes from bone marrows and leukemic bloods. In: Human genetics a practical approach vol. II. Malignancy and acquired abnormalities, 2nd edn. (ed. by D.E.Rooney & B.H. Czepulkowski), pp. 125. IRL Press, Oxford University Press: Oxford.
  • Davies, S.M., Wagner, J.E., Defor, T., Blazer, B.R., Katsanis, E., Kersey, J.H., Orchard, P.J., Phillip, P.B., Weisdorf, D.J. & Ramsay, N.K.C. (1997) Unrelated donor bone marrow transplantation in children and adolescents with aplastic anaemia or myelodysplasia. British Journal of Haematology, 96, 749756.
  • Dror, Y. & Freedman, M.H. (1999) Shwachman–Diamond syndrome: an inherited preleukaemic bone marrow failure with aberrant hematopoetic progenitors and faulty marrow microenvironment. Blood, 94, 30483054.
  • Dror, Y., Squire, J., Durie, P. & Freedman, M.H. (1998) Malignant myeloid transformation with isochromosome 7q in Shwachman– Diamond syndrome. Leukaemia, 12, 15911595.
  • Faber, J., Lauener, R., Wick, F., Betts, D., Filgueira, L., Seger, R.A. & Gungor, T. (1999) Shwachman–Diamond syndrome: early bone marrow transplantation in a high risk patient and new clues to pathogenesis. European Journal of Pediatrics, 158, 9951000.
  • Goobie, S., Popovic, M., Morrison, J., Ellis, L., Ginzberg, H., Boocock, G.R.B., Ehtesham, N., Bétard, C., Brewer, C.G., Roslin, N.M., Hudson, T.J., Morgan, K., Fujiwara, T.M., Durie, P.R. & Rommens, J.M. (2001) Shwachman–Diamond Syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. American Journal of Human Genetics, 68, 10481054.
  • Greenberg, P., Cox, C., Le Beau, M.M., Fernaux, P., Morel, P., Sanz, G., Sanz, M., Vallepsi, T., Hamblin, T., Oscier, D., Ohyashiki, K., Toyama, K., Aul, C., Mufti, G. & Bennet, J. (1997) International scoring system for evaluating prognosis in myelodysplastic syndromes. Blood, 89, 20792088.
  • Guinan, E.C., Tarbell, N.J., Tantravahi, R. & Wenstein, H.J. (1989) Bone marrow transplantation for children with myelodysplastic syndromes. Blood, 73, 619622.
  • ISCN (1995) An international system for human cytogenetic nomenclature (ed. by F.Mitelman). S. Karger, Basel.
  • Johansson, B., Mertens, F., Heim, S., Kristoffersson, U. & Mitelman, F. (1991) Cytogenetics of secondary myelodysplasia (sMDS) and acute nonlymphocytic leukaemia (sANNL). European Journal of Haematology, 47, 1721.
  • Kalra, R., Dale, D., Freedman, M., Bonilla, M.A., Weinblatt, M., Ganser, A., Bowman, P., Abish, S., Priest, J., Oseas, R.S., Olson, K., Paderanga, D. & Shannon, K. (1995) Monosomy 7 and activating RAS mutations accompany malignant transformation in patients with congenital neutropenia. Blood, 86, 45794586.
  • Labal de Vinuesa, M., Slavutsky, I. & Larripa, I. (1987) Presence of isochromosomes in hematological diseases. Cancer Genetics and Cytogenetics, 25, 4754.
  • Maserati, E., Minelli, A., Olivier, C., Bannini, L., Marchi, A., Bozzola, M., Domesino, C., Scappaticci, S. & Pasquali, F. (2000) Isochromosome (7)(q10) in Shwachman syndrome without MDS/AML and role of chromosome 7 anomalies in myeloproliferative disorders. Cancer Genetics and Cytogenetics, 121, 167171.
  • Murray, J.C., Maloney Jr, D.H. & Cooley, L.D. (1996) Isochromosome 7q in childhood myelodysplastic syndrome. Leukaemia, 10, 746747.
  • Nowell, P.C. (1992) Chromosome abnormalities in myelodysplastic syndromes. Seminars in Oncology, 19, 2533.
  • Okcu, F., Roberts, W.M. & Chan, K.W. (1998) Bone marrow transplantation in Shwachman–Diamond syndrome: report of two cases and review of the literature. Bone Marrow Transplantation, 21, 849851.
  • Passmore, S.J., Hann, I.M., Stiller, C.A., Ramani, P., Swansbury, G.J., Gibbons, B., Reeves, B.R. & Chessels, J.M. (1995) Pediatric myelodysplasia: a study of 68 children and a new prognostic scoring system. Blood, 85, 17421750.
  • Savilathi, E. & Rapola, J. (1984) Frequent myocardial lesions in Shwachman's syndrome. Eight fatal cases amoung 16 Finnish patients. Acta Pediatrics of Scandanavia, 73, 642651.
  • Seymour, J.F. & Escudier, S.M. (1993) Acute leukemia complicating bone marrow hypoplasia in an adult with Shwachman's syndrome. Leukemia and Lymphoma, 12, 131135.
  • Shannon, K.M., Turhan, A.G., Chang, S.S.Y., Bowcock, A.M., Rogers, P.C., Carroll, W.L., Cowan, M.J., Glader, B.E., Eaves, C.J., Eaves, A.G. & Kan, Y.W. (1989) Familial bone marrow monosomy 7: evidence that the predisposing locus is not on the long arm of chromosome 7. Journal of Clinical Investigation, 84, 984989.
  • Shwachman, H., Diamond, L.K., Osli, F.A. & Khan, K.T. (1964) The syndrome of pancreatic insufficiency and bone marrow dysfunction. Journal of Pediatrics, 65, 645663.
  • Smith, O.P., Chan, M.Y., Evans, J.P. & Veys, P. (1995) Shwachman–Diamond syndrome and matched unrelated donor BMT. Bone Marrow Transplantation, 16, 717718.
  • Smith, O.P., Hann, I.M., Chessels, J.M., Reeves, B.R. & Milla, P. (1996) Haematological abnormalities in Shwachman–Diamond syndrome. British Journal of Haematology, 94, 279284.
  • Sokolic, R.A., Ferguson, W. & Mark, H.F. (1999) Discordant detection of monosomy 7 by GTG banding and FISH in a patient with Shwachman–Diamond syndrome without evidence of myelodysplastic syndrome or acute myelogenous leukemia. Cancer Genetics and Cytogenetics, 115, 106113.
  • Solé, F., Espinet, B., Sanz, G.F., Cervera, J., Calasanz, M.J., Luño, E., Prieto, F., Granada, I., Hernández, J.M., Cigudosa, J.C., Diez, J.L., Bureo, E., Marqués, M.L., Arranz, E., Ríos, R., Climent, J.A.M., Vallespí, L.F. & Woessner, S. (2000) Incidence, characterization and prognostic significance of chromosomal abnormalities in 640 patients with primary myelodysplastic syndromes. British Journal of Haematology, 108, 346356.
  • Tsai, P.H., Sahdev, I., Herry, A. & Lipton, J.M. (1990) Fatal cyclophosphamide-induced congestive heart failure in a 10 year old boy with Shwachman–Diamond syndrome and severe bone marrow failure with allogeneic bone marrow transplantation. American Journal of Pediatric Haematology and Oncology, 12, 472476.
  • Woods, W.G., Roloff, J.S., Lukens, J.N. & Krivit, W. (1981) The occurrence of leukaemia in patients with the Shwachman syndrome. Journal of Pediatrics, 99, 425428 .