Cytogenetic and molecular study of 32 Down syndrome families: Potential leukaemia predisposing role of the most proximal segment of chromosome 21q

British Journal of Haematology

Volumn 103, Issue 1, 1998, Pages 213-216

  Cavani, Simona ^a   Perfumo, Chiara ^a   Argusti, Alessandra ^a   Pierluigi, Mauro ^a   Perroni, Lucia ^a   Schmiegelow, Kjeld ^b   Petersen, Michael B ^c,d   Cotter, Finbarr E ^e   Strigini, Paolo ^f   Dagna Bricarelli, Franca ^a   Nižetić, Dean ^g  

^a GALLIERA HOSPITAL   (Italy)

^b Rigshospitalet   (Denmark)

^c JOHN F KENNEDY INSTITUTE   (Denmark)

^d AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f UNIVERSITY OF GENOA   (Italy)

^g UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

21q11; ANLL (M7); Disomic homozygosity; Down syndrome leukaemia; Trisomy 21

Indexed keywords

ARTICLE; CHROMOSOME 21Q; CLINICAL ARTICLE; DISEASE PREDISPOSITION; DOWN SYNDROME; HUMAN; HUMAN CELL; HUMAN TISSUE; LEUKEMIA; MYELOPOIESIS; PREVALENCE; PRIORITY JOURNAL; TRISOMY 21;

CHROMOSOMES, HUMAN, PAIR 21; DOWN SYNDROME; GENETIC PREDISPOSITION TO DISEASE; HOMOZYGOTE; HUMANS; LEUKEMIA, LYMPHOCYTIC, ACUTE; LEUKEMIA, NONLYMPHOCYTIC, ACUTE; PEDIGREE; RISK FACTORS;

EID: 7844233319     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.1998.00924.x     Document Type: Article

References (12)

1. Abe, K., Kajii, T. & Niikawa, N. (1989) Disomic homozygosity in 21-trisomic cells: a mechanism responsible for transient myeloproliferative syndrome. Human Genetics, 82, 313-316.
2. Fong, C. & Brodeur, G. (1987) Down's syndrome and leukemia: epidemiology, genetics, cytogenetics, and mechanism of leukemogenesis. Cancer Genetics und Cytogenetics, 28, 55-76.
3. Krivit, W. & Good, R. (1957) Simultaneous occurrence of mongolism and leukemia: report of a nationwide survey. American Journal of Pediatrics, 94, 289-293.
4. Lamb, N.E., Feingold, E., Savage, A., Avramopoulos, D., Freeman, S., Gu, Y., Hallberg, A., Hersey, J., Karadima, G., Pettay, D., Saker, D., Shen, J., Taft, L., Mikkelsen, M., Petersen, M.B., Hassold, T. & Sherman, S.L. (1997) Characterization of susceptible chiasma configurations that increase the risk for maternal nondisjunction of chromosome 21. Human Molecular Genetics, 6, 1391-1399.
5. Lie, S.O., Jonmundsson, G., Mellander, L., Siimes, M.A., Yssing, M. & Gustafsson, G. (1996) A population-based study of 272 children with acute myeloid leukaemia treated on two consecutive protocols with different intensity: best outcome in girls, infants and children with Down's syndrome. British Journal of Haematology, 94, 82-88.
6. Lorber, B.J., Freeman, S.B., Hassold, T., Ragab, A.H., Vega, R.A., Cockwell, A.E. & Jacobs, P.A. (1992) Characterization and molecular analysis of nondisjunction in 18 cases of trisomy 21 and leukaemia. Genes Chromosomes and Cancer, 4, 222-227.
7. Nükawa, N., Deng, H-X., Abe, K., Harada, N., Okada, T., Tsuchiya, H., Akaboshi, I., Matsuda, I., Fukushima, Y., Kaneko, Y. Kuwano, A. & Kajii, T. (1991) Possible mapping of the gene for transient myeloproliferative syndrome at 21q11.2. Human Genetics, 87, 561-566.
8. Robinson, L. & Neglia, J. (1987) Epidemiology of Down syndrome and childhood acute leukaemia. Oncology and Immunology of Down Syndrome (ed. by E. McCoy and C. Epstein). pp. 19-32. Alan R. liss, New York.
9. Shen, J.J., Williams, B.J., Zipursky, A., Doyle, J., Sherman, S.L., Jacobs, P.A., Shugar, A.L., Soukup, S.W. & Hassold, T.J. (1995) Cytogenetic and molecular studies of Down syndrome individuals with leukemia. American Journal of Human Genetics, 56, 915-925.
10. Shimizu, N., Antonarakis, S.E., Van Broeckhoven, C., Patterson, D., Gardiner, K., Nizetic, D., Creau, N., Delabar, J-M., Korenberg, J., Reeves, R., Doering, J., Ritter, O. & Cuticchia, J. (1995) Report of the Fifth International Workshop on Human Chromosome 21 Mapping. 1994. Cytogenetics and Cell Genetics, 70, 147-182.
11. Slordahl, S.H., Smeland, E.B., Holte, H., Gronn, M., Lie, S.O. & Seip, M. (1993) Leukaemic blasts with markers of four cell lineages in Downs syndrome (megakaryoblastic leukaemia). Medical and Paediatric Oncology, 21, 254-258.
12. Zipursky, A., Peeters, M. & Poon, A. (1987) Megakaryoblastic leukemia and Down syndrome: a review. Pediatric Hematology and Oncology 4, 211-230.