Bibliographie

1. Batista DA, Tuck-Muller CM, Martinez JE, Kearns WG, Pearson PL, Stetten G: A complex chromosomal rearrangement detected prenatally and studied by fluorescence in situ hybridization. Hum Genet 1993, 92:117-121.

2. Delaroche I, Sabani M, Calabrese G, Mingarelli R, Palka G, Dallapiccola B: Fetal translocation between chromosomes 2, 18, and 21 resolved by fish. Prenat Diagn 1995, 15:278-281.

3. Fuster C, Miguez L, Miro R, Rigola MA, Perez A, Egozcue J: Familial complex chromosome rearrangement ascertained by in situ hybridisation. J Med Genet 1997, 34:164-166.

4. Gibson LH, McGrath J, Yang-Feng TL: A complex chromosome rearrangement with at least five breakpoints studied by fluorescence in situ hybridization. Am J Med Genet 1997, 68:417-420.

5. Johannesson T, Ehlers S, Wahlstrom J: Complex chromosome rearrangement involving chromosomes 1, 4 and 16 revealed by fluorescence in situ hybridization. Clin Genet 1997, 51:281-285.

6. Stankiewicz P, Kostyk E, Bocian E, Stanczak H, Parczewska J, Piatkowska E, Mazurczak T, Pietrzyk JJ: Familial four breakpoint complex chromosomal rearrangement as a cause of monosomy 9p22-->pter and trisomy 10p11.2-->pter and 11q21 analysed by dual and triple colour FISH. J Med Genet 1997, 34:696-699.

7. Joyce CA, Cabral de Almeida JC, Santa Rose AA, Correia P, Moraes L, Bastos E, Llerena J, Jr.: A de novo complex chromosomal rearrangement with nine breakpoints characterized by FISH in a boy with mild mental retardation, developmental delay, short stature and microcephaly. Clin Genet 1999, 56:86-92.

8. Peschka B, Leygraaf J, Hansmann D, Hansmann M, Schrock E, Ried T, Engels H, Schwanitz G, Schubert R: Analysis of a de novo complex chromosome rearrangement involving chromosomes 4, 11, 12 and 13 and eight breakpoints by conventional cytogenetic, fluorescence in situ hybridization and spectral karyotyping. Prenat Diagn 1999, 19:1143-1149.

9. Rothlisberger B, Kotzot D, Brecevic L, Koehler M, Balmer D, Binkert F, Schinzel A: Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes. Eur J Hum Genet 1999, 7:873-883.

10. Kaiser-Rogers KA, Rao KW, Michaelis RC, Lese CM, Powell CM: Usefulness and limitations of FISH to characterize partially cryptic complex chromosome rearrangements. Am J Med Genet 2000, 95:28-35.

11. Callen DF, Eyre H, McDonnell S, Schuffenhauer S, Bhalla K: A complex rearrangement involving simultaneous translocation and inversion is associated with a change in chromatin compaction. Chromosoma 2002, 111:170-175.

12. Grasshoff U, Singer S, Liehr T, Starke H, Fode B, Schoning M, Dufke A: A complex chromosomal rearrangement with a translocation 4;10;14 in a fertile male carrier: ascertainment through an offspring with partial trisomy 14q13-->q24.1 and partial monosomy 4q27-->q28. Cytogenet Genome Res 2003, 103:17-23.

13. Astbury C, Christ L, Aughton D, Cassidy S, Fujimoto A, Pletcher B, Schafer I, Schwartz S: Delineation of complex chromosomal rearrangements: evidence for increased complexity. Human Genetics 2004, 114:448-457.

14. Patsalis PC, Evangelidou P, Charalambous S, Sismani C: Fluorescence in situ hybridization characterization of apparently balanced translocation reveals cryptic complex chromosomal rearrangements with unexpected level of complexity. Eur J Hum Genet 2004, 12:647-653.

15. Aboura A, Labrune P, Perreaux F, Poncet V, Brisset S, Foix-L'Helias L, Tachdjian G: Deletion in the ABL gene resulting from a meiotic recombination of a maternal (3;22;9)(q22;q12;q34,1) translocation. Journal of Medical Genetics 2005, 40:e6.

16. Gribble SM, Prigmore E, Burford DC, Porter KM, Ng BL, Douglas EJ, Fiegler H, Carr P, Kalaitzopoulos D, Clegg S, et al.: The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes. J Med Genet 2005, 42:8-16.