Frequency of chromosome healing and interstitial telomeres in 40 cases of constitutional abnormalities

Cytogenetic and Genome Research

Volumn 125, Issue 3, 2009, Pages 176-185

  Fortin, F ^a,b,c   Beaulieu Bergeron, M ^a,b,c   Fetni, R ^a,b   Lemieux, N ^a,b,c  

^a UNIVERSITÉ DE MONTRÉAL   (Canada)

^b Département de Pathologie   (Canada)

^c UNIVERSITY OF MONTREAL   (Canada)

Author keywords

Chromosome healing; FISH; Interstitial telomeres; Ring chromosomes; Subtelomeres; Terminal deletions; Translocations

Indexed keywords

ARTICLE; CHROMOSOME; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE SEQUENCE; HUMAN; MEIOSIS; MITOSIS; PRIORITY JOURNAL; RETROSPECTIVE STUDY; RING CHROMOSOME; TELOMERE;

CHROMOSOMAL INSTABILITY; CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; RETROSPECTIVE STUDIES; RING CHROMOSOMES; TELOMERE; TRANSLOCATION, GENETIC;

EID: 70349116972     PISSN: 14248581     EISSN: None     Source Type: Journal    
DOI: 10.1159/000230002     Document Type: Article

References (61)

1. Ballif BC, Yu W, Shaw CA, Kashork CD, Shaffer LG: Monosomy 1p36 breakpoint junctions suggest premeiotic breakage-fusion-bridge cycles are involved in generating terminal deletions. Hum Mol Genet 12: 2153-2165 (2003).
2. Bolzan AD, Bianchi MS: Telomeres, interstitial telomeric repeat sequences, and chromo-somal aberrations. Mutat Res 612: 189-214 (2006).
3. Bosco G, Haber JE: Chromosome break-induced DNA replication leads to nonreciprocal translocations and telomere capture. Genetics 150: 1037-1047 (1998).
4. Boutouil M, Fetni R, Qu J, Dallaire L, Richer CL, Lemieux N: Fragile site and interstitial telomere repeat sequences at the fusion point of a de novo (Y;13) translocation. Hum Genet 98: 323-327(1996).
5. Calabrese G, Giannotti A, Mingarelli R, Di Gilio MC, Piemontese MR, Palka G: Two newborns with chromosome 4 imbalances: Deletion 4q33] q35 and ring r(4)(pterq35.2-qter). Clin Genet 51: 264-267(1997).
6. Canevini MP, Sgro V, Zuffardi O, Canger R, Car-rozzo R, et al: Chromosome 20 ring: A chro-mosomal disorder associated with a particular electroclinical pattern. Epilepsia 39: 942-951 (1998).
7. Conte RA, Kleyman SM, Kharode C, Verma RS: Delineation of a ring chromosome 16 by the FISH-technique: A case report with review. Clin Genet 51: 196-199(1997).
8. Daniel A, St Heaps L: Chromosome loops arising from intrachromosomal tethering of telo-meres occur at high frequency in G1 (non-cycling) mitotic cells: Implications for telo-mere capture. Cell Chromosome 3: 3 (2004) at http://www.cellandchromosome.com/content/3/1/3.
9. Davies AF, Kirby TL, Docherty Z, Ogilvie CM: Characterization of terminal chromosome anomalies using multisubtelomere FISH. Am J Med Genet A 120A:483-489 (2003).
10. de Lange T: Telomere dynamics and genome instability in human cancer, in Blackburn EH, Greider CW (eds): Telomeres, pp 265-293
11. (Cold Spring Harbor Laboratory Press, Cold Spring Harbor 1995).
12. DesGroseilliers M, Fortin F, Lafreniere AM, Brochu P, Lemyre E, Lemieux N: Dynamic increase of a 45,X cell line in a patient with multicentric ring Y chromosomes. Cytogenet Genome Res 115: 90-93 (2006).
13. Devriendt K, Petit P, Matthijs G, Vermeesch JR, Holvoet M, et al: Trisomy 15 rescue with jumping translocation of distal 15q in Prader-Willi syndrome. J Med Genet 34: 395-399 (1997).
14. Elghezal H, Hannachi H, Mougou S, Kammoun H, Triki C, Saad A: Ring chromosome 20 syndrome without deletions of the subtelomeric and CHRNA4-KCNQ2 genes loci. Eur J Med Genet 50: 441-445 (2007).
15. Flejter WL, Finlinson D, Root S, Nguyen W, Brothman AR, Viskochil D: Familial ring (19) chromosome mosaicism: Case report and review. Am J Med Genet 66: 276-280 (1996).
16. Flint J, Craddock CF, Villegas A, Bentley DP, Williams HJ, et al: Healing of broken human chromosomes by the addition of telomeric repeats. Am J Hum Genet 55: 505-512 (1994).
17. Griffith JD, Comeau L, Rosenfield S, Stansel RM, Bianchi A, et al: Mammalian telomeres end in a large duplex loop. Cell 97: 503-514 (1999).
18. Hackett JA, Feldser DM, Greider CW: Telomere dysfunction increases mutation rate and ge-nomic instability. Cell 106: 275-286(2001).
19. Henegariu O, Pescovitz OH, Vance GH, Ver-brugge J, Heerema NA: A case with mosaic di-, tetra-, and octacentric ring Y chromosomes. Am J Med Genet 71: 426-429(1997).
20. Huang B, Martin CL, Sandlin CJ, Wang S, Led-better DH: Mitotic and meiotic instability of a telomere association involving the Y chromosome. Am J Med Genet A 129A:120-123 (2004).
21. Ijdo JW, Baldini A, Ward DC, Reeders ST, Wells RA: Origin of human chromosome 2: An ancestral telomeretelomere fusion. Proc Natl Acad Sci USA 88: 9051-9055 (1991).
22. ISCN (2009): An International System for Human Cytogenetic Nomenclature, Shaffer LG, Slovak ML, Campbell LJ (eds) (S. Karger, Ba-sel, 2009).
23. Jewett T, Marnane D, Stewart W, Hayworth-Hodge R, Finklea L, et al: Jumping transloca-tion with partial duplications and triplications of chromosomes 7 and 15. Clin Genet 53: 415-420(1998).
24. Josifova DJ, Mazzaschi R, Ballard T, Ogilvie CM, Splitt M: A constitutional telomeric translocation showing meiotic instability. Am J Med Genet A 140: 1228-1233 (2006).
25. Kosho T, Matsushima K, Sahashi T, Mitsui N, Fukushima Y, et al: 'Ringing chromosome 2 confirmed by FISH analysis using chromosome-specific subtelomeric probes. Genet Couns 16: 65-70(2005).
26. Le Caignec C, Boceno M, Jacquemont S, Nguyen The Tich S, Rival JM, David A: Inherited ring chromosome 8 without loss of subtelomeric sequences. Ann Genet 47: 289-296 (2004).
27. Lefort G, Blanchet P, Chaze A, Sarda P, Demaille J, Pellestor F: PRINS labeling reveals interstitial telomeric sequences in a constitutional jumping translocation. Am J Hum Genet 61 (Suppl):A131 (1997).
28. Lemieux N, Drouin R, Richer CL: High-resolution dynamic and morphological G-bandings (GBG and GTG): A comparative study. Hum Genet 85: 261-266(1990).
29. Lemieux N, Dutrillaux B, Viegas-Pequignot E: A simple method for simultaneous R- or G-banding and fluorescence in situ hybridization of small single-copy genes. Cytogenet Cell Genet 59: 311-312 (1992).
30. Luciani JJ, de Mas P, Depetris D, Mignon-Ravix C, Bottani A, et al: Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: Cytogenetic, molecular, and clinical analyses of 32 new observations. J Med Genet 40: 690-696(2003).
31. Maranda B, Lemieux N, Lemyre E: Familial deletion 18p syndrome: Case report. BMC Med Genet 7: 60(2006)athttp://www.biomedcen-tral.com/1471-2350/7/60.
32. Marinescu RC, Johnson EI, Grady D, Chen X-N, Overhauser J: FISH analysis of terminal deletions in patients diagnosed with Cridu-Chat syndrome. Clin Genet 56: 282-288(1999).
33. Melek M, Shippen DE: Chromosome healing: Spontaneous and programmed de novo telo-mere formation by telomerase. Bioessays 18: 301-308(1996).
34. Meltzer PS, Guan X-Y, Trent JM: Telomere capture stabilizes chromosome breakage. Nat Genet 4: 252-255(1993).
35. Meyne J, Ratliff RL, Moyzis RK: Conservation of the human telomere sequence (TTAGGG)n among vertebrates. Proc Natl Acad Sci USA 86: 7049-7053 (1989).
36. Mignon-Ravix C, Depetris D, Luciani JJ, Cuoco C, Krajewska-Walasek M, et al: Recurrent rearrangements in the proximal 15q11-q14 region: A new breakpoint cluster specific to unbalanced translocations. Eur J Hum Gen-et 15: 432-440(2007).
37. Morin GB: The human telomere terminal transferase enzyme is a ribonucleoprotein that synthesizes TTAGGG repeats. Cell 59: 521-529 (1989).
38. Moyzis RK, Buckingham JM, Cram LS, Dani M, Deaven LL, et al: A highly conserved repetitive DNA sequence, (TTAGGG)n, present at the telomeres of human chromosomes. Proc Natl Acad Sci USA 85: 6622-6626 (1988).
39. Neumann AA, Reddel RR: Telomere maintenance and cancer - look, no telomerase. Nat Rev Cancer 2: 879-884 (2002).
40. Ning Y, Liang JC, Nagarajan L, Schrock E, Ried T: Characterization of 5q deletions by subtelomeric probes and spectral karyotyping. Cancer Genet Cytogenet 103: 170-172 (1998).
41. Park VM, Gustashaw KM, Wathen TM: The presence of interstitial telomeric sequences in constitutional chromosome abnormalities. Am J Hum Genet 50: 914-923 (1992).
42. Petit P, Devriendt K, Vermeesch JR, De Cock P, Fryns JP: Unusual de novo t(13; 15)(q12.1;p13) translocation leading to complex mosaicism including jumping translocation. Ann Genet 41: 22-26 (1998).
43. Pezzolo A, Gimelli G, Cohen A, Lavaggetto A, Romano C, et al: Presence of telomeric and subtelomeric sequences at the fusion points of ring chromosomes indicates that the ring syndrome is caused by ring instability. Hum Genet 92: 23-27(1993).
44. Qu J, Dallaire L, Fetni R, Lemieux N, Richer CL: Repetitive telomeric sequences in chromo-somal translocations involving chromosome 21. Am J Hum Genet 55(Suppl):A115 (1994).
45. Ravnan JB, Tepperberg JH, Papenhausen P, Lamb AN, Hedrick J, et al: Subtelomere FISH analysis of 11 688 cases: An evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet 43: 478-489 (2006).
46. Reddy KS, Murphy T: Fusion of 9 beta-satellite and telomere (TTAGGG)(n) sequences results in a jumping translocation. Hum Genet 107: 268-275(2000).
47. Reeve A, Norman A, Sinclair P, Whittington-Smith R, Hamey Y, et al: True telomeric translocation in a baby with the Prader-Willi phenotype. Am J Med Genet 47: 1-6 (1993).
48. Ricard-Mousnier B, N'Guyen S, Dubas F, Pouplard F,Guichet A: Ring chromosome 17 epilepsy may resemble that of ring chromosome 20 syndrome. Epileptic Disord 9: 327-331 (2007).
49. Rivera H, Sitch FL, Crolla JA: Telomeric translocations are uncommon. Genet Couns 6: 343-347 (1995).
50. Rivera H, Vasquez AI, Perea FJ: Centromere-telomere (12; 8p) fusion, telomeric 12q translocation, and i(12p) trisomy. Clin Genet 55: 122-126(1999).
51. Rossi E, Floridia G, Casali M, Danesino C, Chiu-mello G, et al: Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences. J Med Genet 30: 926-931 (1993).
52. Sigurdardottir S, Goodman BK, Rutberg J, Thomas GH, Jabs EW, Geraghty MT: Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of 'Complete ring' syndrome. Am J Med Genet 87: 384-390(1999).
53. Speevak MD, Smart C, Unwin L, Bell M, Farrell SA: Molecular characterization of an inherited ring (19) demonstrating ring opening. Am J Med Genet A 121A:141-145 (2003).
54. van Langen IM, Otter MA, Aronson DC, Over-weg-Plandsoen WC, Hennekam RC, et al: Supernumerary ring chromosome 20 characterized by fluorescence in situ hybridization. Clin Genet 49: 49-53(1996).
55. Varley H, Di S, Scherer SW, Royle NJ: Characterization of terminal deletions at 7q32 and 22q13.3 healed by de novo telomere addition. Am J Hum Genet 67: 610-622(2000).
56. Varley H, Pickett HA, Foxon JL, Reddel RR, Royle NJ: Molecular characterization of inter-telomere and intratelomere mutations in human ALT cells. Nat Genet 30: 301-305 (2002).
57. Vermeesch JR, Petit P, Speleman F, Devriendt K, Fryns JP, Marynen P: Interstitial telomeric sequences at the junction site of a jumpingS, Dubas F, translocation. Hum Genet 99: 735-737 (1997).
58. Wilkie AO, Lamb J, Harris PC, Finney RD, Higgs DR: A truncated human chromosome 16 associated with alpha thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n. Nature 346: 868-871(1990).
59. Williams ES, Klingler R, Ponnaiya B, Hardt T, Schrock E, et al: Telomere dysfunction and DNA-PKcs deficiency: Characterization and consequence. Cancer Res 69: 2100-2107 (2009).
60. Zahed L, Oreibi G, Azar C, Salti I: Ring chromosome 18q and jumping translocation 18p in an adult male with hypergonadotrophic hypogonadism. Am J Med Genet A 129A:25-28 (2004).
61. Zou YS, Van Dyke DL, Thorland EC, Chhabra HS, Michels VV, et al: Mosaic ring 20 with no detectable deletion by FISH analysis: Characteristic seizure disorder and literature re- syndrome. Am J Med Genet A 140: 1696-1706 (2006).