Forty-eight new cases with infertility due to balanced chromosomal rearrangements: Detailed molecular cytogenetic analysis of the 90 involved breakpoints

International Journal of Molecular Medicine

Volumn 19, Issue 6, 2007, Pages 855-864

  Manvelyan, M ^a,b   Schreyer, I ^b   Hols Herpertz I ^c   Kohler S ^d   Niemann, R ^d   Hehr, U ^e   Belitz, B ^f   Bartels, I ^g   Gotz J ^h   Huhle, D ^h   Kossakiewicz, M ⁱ   Tittelbach, H ⁱ   Neubauer, S ⁱ   Polityko, A ^j   Mazauric, M L ^k   Wegner, R ^l   Stumm, M ^l   Kupferling P ^m   Suss F ^m   Kunze, H ⁿ   Weise, A ^b   Liehr, Thomas ^b   Mrasek, K ^b   more..

^a YEREVAN STATE UNIVERSITY   (Armenia)

^b Institut fur Humangenetik und Anthropologie   (Germany)

^c Cytogenetic Institute   (Germany)

^d Practice of Human Genetics   (Germany)

^e Laboratory of Human Genetics   (Germany)

^f Practice of Human Genetics   (Germany)

^g Institute of Human Genetics   (Germany)

^h Practice of Human Genetics   (Germany)

ⁱ Practice of Human Genetics   (Germany)

^j Ministry of Health Republic of Belarus   (Belarus)

^k Practice of Prenatal Medicine and Genetics   (Germany)

^l Practice of Human Genetics   (Germany)

^m Practice of Human Genetics   (Germany)

ⁿ Cytogenetic Laboratory   (Germany)

more..

Author keywords

Breakpoint; Fragile site; Infertility; Insertion; Inversion; Multicolor banding; Translocation

Indexed keywords

ARTICLE; CHROMOSOME ANALYSIS; CHROMOSOME BANDING PATTERN; CHROMOSOME BREAKAGE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE TRANSLOCATION; GENETICS; HUMAN; INFERTILITY; KARYOTYPING; MALE;

CHROMOSOME BANDING; CHROMOSOME BREAKAGE; CYTOGENETIC ANALYSIS; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFERTILITY; KARYOTYPING; MALE; TRANSLOCATION, GENETIC;

EID: 34548590277     PISSN: 11073756     EISSN: 1791244X     Source Type: Journal    
DOI: 10.3892/ijmm.19.6.855     Document Type: Article

References (52)

1. Shah K, Sivapalan G, Gibbons N, Tempest H and Griffin DK: The genetic basis of infertility. Reproduction 126: 13-25, 2003.
2. Uehara S, Hashiyada M, Sato K, Sato Y, Fujimori K and Okamura K: Preferential X-chromosome inactivation in women with idiopathic recurrent pregnancy loss. Fertil Steril 76: 908-914, 2001. (Pubitemid 33031314)
3. Liehr T, Claussen U and Starke H: Small supernumerary marker chromosomes (sSMC) in humans. Cytogenet Genome Res 107: 55-67, 2004.
4. Daniely M, Aviram-Goldring A, Barkai G and Goldman B: Detection of chromosomal aberration in fetuses arising from recurrent spontaneous abortion by comparative genomic hybridization. Hum Reprod 13: 805-809, 1998. (Pubitemid 28239178)
5. Tharapel AT, Tharapel SA and Bannerman RM: Recurrent pregnancy losses and parental chromosome abnormalities: a review. Br J Obstet Gynaecol 92: 899-914, 1985.
6. Starke H, Seidel J, Henn W, Reichardt S, Volleth M, Stumm M, Behrend C, Sandig KR, Kelbova C, Senger G, Albrecht B, Hansmann I, Heller A, Claussen U and Liehr T: Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements. Eur J Hum Genet 10: 790-800, 2002.
7. Liehr T, Heller A, Starke H, Rubtsov N, Trifonov V, Mrasek K, Weise A, Kuechler A and Claussen U: Microdissection based high resolution multicolor banding for all 24 human chromosomes. Int J Mol Med 9: 335-339, 2002.
8. Starke H, Nietzel A, Weise A, Heller A, Mrasek K, Belitz B, Kelbova C, Volleth M, Albrecht B, Mitulla B, Trappe R, Bartels I, Adolph S, Dufke A, Singer S, Stumm M, Wegner RD, Seidel J, Schmidt A, Kuechler A, Schreyer I, Claussen U, von Eggeling F and Liehr T: Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification. Hum Genet 114: 51-67, 2003. (Pubitemid 38165536)
9. Liehr T, Heller A, Eichhorn KH, Beensen V, Schulze E, Starke H, Claussen U and Schreyer I: Inherited cryptic chromosomal aberrations may be more easily detected in their balanced forms: a case report with hidden der(1)t(1;17) (q44;p13.2). Prenat Diagn 24: 1022-1024, 2004.
10. Lemke J, Chudoba I, Senger G, Stumm M, Loncarevic IF, Henry C, Zabel B and Claussen U: Improved definition of chromosomal breakpoints using high-resolution multicolour banding. Hum Genet 108: 478-483, 2001. (Pubitemid 32700349)
11. Heller A, Loncarevic IF, Glaser M, Gebhart E, Trautmann U, Claussen U and Liehr T: Breakpoint differentiation in chromosomal aberrations of hematological malignancies: Identification of 33 previously unrecorded breakpoints. Int J Oncol 24: 127-136, 2004.
12. Weise A, Starke H, Heller A, Tönnies H, Volleth M, Stumm M, Gabriele S, Nietzel A, Claussen U and Liehr T: Chromosome 2 aberrations in clinical cases characterised by high resolution multicolour banding and region-specific FISH probes. J Med Genet 39: 434-439, 2002.
13. Baptista J, Prigmore E, Gribble SM, Jacobs PA, Carter NP and Crolla JA: Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals. Eur J Hum Genet 13: 1205-1212, 2005.
14. Shaffer LG and Bejjani BA: Medical applications of array CGH and the transformation of clinical cytogenetics. Cytogenet Genome Res 115: 303-309, 2006.
15. Gribble SM, Prigmore E, Burford DC, Porter KM, Ng BL, Douglas EJ, Fiegler H, Carr P, Kalaitzopoulos D, Clegg S, Sandstrom R, Temple IK, Youings SA, Thomas NS, Dennis NR, Jacobs PA, Crolla JA and Carter NP: The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes. J Med Genet 42: 8-16, 2005.
16. Madan K, Nieuwint AW and van Bever Y: Recombination in a balanced complex translocation of a mother leading to a balanced reciprocal translocation in the child. Review of 60 cases of balanced complex translocations. Hum Genet 99: 806-815, 1997.
17. Kuechler A, Ziegler M, Blank C, Rommel B, Bullerdiek J, Ahrens J, Claussen U and Liehr T: A highly complex chromosomal rearrangement between five chromosomes in a healthy female diagnosed in preparation for intracytoplasmatic sperm injection. J Histochem Cytochem 53: 355-357, 2005.
18. Wang YT, Bajalica S, Han FY, Wang ZC, Bui TH and Xie YG: Direct and inverted reciprocal chromosome insertions between chromosomes 7 and 14 in a woman with recurrent miscarriages. Am J Med Genet 52: 349-351, 1994.
19. Starke H, Senger G, Kossakiewicz M, Tittelbach H, Rau D, Rubtsov N, Trifonov V, Heller A, Hartmann I, Claussen U and Liehr T: Maternal insertion of 18q11.2-q12.2 in 18p11.3 of the same chromosome analysed by microdissection and multicolour banding (MCB). Prenat Diagn 21: 1049-1052, 2001. (Pubitemid 34056187)
20. Rao L, Murthy K, Babu A, Venkata P, Deenadayal M and Singh L: Chromosome inversions and a novel chromosome insertion associated with recurrent miscarriages in South India. Arch Gynecol Obstet 272: 273-277, 2005.
21. Claussen U, Michel S, Mühlig P, Westermann M, Grummt UW, Kromeyer-Hauschild K and Liehr T: Demystifying chromosome preparation and the implications for the concept of chromosome condensation during mitosis. Cytogenet Genome Res 98: 136-146, 2002.
22. Reiter LT, Liehr T, Rautenstrauss B, Robertson HM and Lupski JR: Localization of mariner DNA transposons in the human genome by PRINS. Genome Res 9: 839-843, 1999.
23. Ruiz-Herrera A, Garcia F, Mora L, Egozcue J, Ponsa M and Garcia M: Evolutionary conserved chromosomal segments in the human karyotype are bounded by unstable chromosome bands. Cytogenet Genome Res 108: 161-174, 2005.
24. Bailey JA, Yavor AM, Massa HF, Trask BJ and Eichler EE: Segmental duplications: organization and impact within the current human genome project assembly. Genome Res 11: 1005-1017, 2001.
25. Sankoff D, Deneault M, Turbis P and Allen C: Chromosomal distributions of breakpoints in cancer, infertility, and evolution. Theor Popul Biol 61: 497-501, 2002.
26. Glover TW, Arlt MF, Casper AM and Durkin SG: Mechanisms of common fragile site instability. Hum Mol Genet 14: R197-R205, 2005.
27. Bailey JA and Eichler EE: Primate segmental duplications: crucibles of evolution, diversity and disease. Nat Rev Genet 7: 552-564, 2006.
28. Simonic I and Gericke GS: The enigma of common fragile sites. Hum Genet 97: 524-531, 1996.
29. Liehr T, Reiter LT, Lupski JR, Murakami T, Claussen U and Rautenstrauss B: Regional localization of 10 mariner transposon-like ESTs by means of FISH-evidence for a correlation with fragile sites. Mamm Genome 12: 326-328, 2001.
30. Denison SR, Simper RK and Greenbaum IF: How common are common fragile sites in humans: interindividual variation in the distribution of aphidicolin-induced fragile sites. Cytogenet Genome Res 101: 8-16, 2003.
31. Glover TW: Common fragile sites. Cancer Lett 232: 4-12, 2006.
32. Emanuel BS and Shaikh TH: Segmental duplications: an 'expanding' role in genomic instability and disease. Nat Rev Genet 2: 791-800, 2001.
33. Miro R, Clemente IC, Fuster C and Egozcue J: Fragile sites, chromosome evolution, and human neoplasia. Hum Genet 75: 345-349, 1987.
34. Smith DI, Huang H and Wang L: Common fragile sites and cancer (Review). Int J Oncol 12: 187-196, 1998.
35. Arlt MF, Durkin SG, Ragland RL and Glover TW: Common fragile sites as targets for chromosome rearrangements. DNA Repair. 5: 1126-1135, 2006. (Pubitemid 44376448)
36. Raghavan SC and Lieber MR: DNA structures at chromosomal translocation sites. Bioessays 28: 480-494, 2006.
37. Ait-Allah A, Ming P, Salem H and Reece E: The clinical importance of pericentric inversion of chromosome 9 in prenatal diagnosis. J Matern Fetal Invest 7: 126-128, 1979.
38. Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL, Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R, Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H, Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M, Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L, Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C, Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R, Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E, Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley AM, King A, Knights A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI, Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M, Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A, Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL, Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL, Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ, Bentley DR, Beck S, Rogers J and Dunham I: DNA sequence and analysis of human chromosome 9. Nature 429: 369-374, 2004. (Pubitemid 38715123)
39. Schmidt S, Claussen U, Liehr T and Weise A: Evolution versus constitution: differences in chromosomal inversion. Hum Genet 117: 213-219, 2005. (Pubitemid 43136797)
40. Papanikolaou EG, Vernaeve V, Kolibianakis E, Assche EV, Bonduelle M, Liebaers I, Van Steirteghem A and Devroey P: Is chromosome analysis mandatory in the initial investigation of normovulatory women seeking infertility treatment? Hum Reprod 20: 2899-2903, 2005.
41. Newman TL, Tuzun E, Morrison VA, Hayden KE, Ventura M, McGrath SD, Rocchi M and Eichler EE: A genome-wide survey of structural variation between human and chimpanzee. Genome Res 15: 1344-1356, 2005. (Pubitemid 41400900)
42. Egeli U, Ozkan L, Tunca B, Kahraman S, Cecener G, Ergul E and Engin K: The relationship between genetic susceptibility to head and neck cancer with the expression of common fragile sites. Head Neck 22: 591-598, 2000. (Pubitemid 30663075)
43. Jiahui X, Luyun L, Xiaoxuan H and Jianyun X: Fragile site 1q44 involved in nasopharyngeal carcinoma. A study of a marker chromosome der(1)t(1;3) (q44;p11). Cancer Genet Cytogenet 35: 135-140, 1988.
44. Martinez A, Walker RA, Shaw JA, Dearing SJ, Maher ER and Latif F: Chromosome 3p allele loss in early invasive breast cancer: detailed mapping and association with clinicopathological features. Mol Pathol 54: 300-306, 2001.
45. Furuya T, Ochi H and Watanabe S: Common fragile sites in chromosomes of bone marrow cells and peripheral blood lymphocytes from healthy persons and leukemia patients. Cancer Genet Cytogenet 43: 131-138, 1989. (Pubitemid 19281699)
46. Ferber MJ, Thorland EC, Brink AA, Rapp AK, Phillips LA, McGovern R, Gostout BS, Cheung TH, Chung TK, Fu WY and Smith DI: Preferential integration of human papillomavirus type 18 near the c-myc locus in cervical carcinoma. Oncogene 22: 7233-7242, 2003. (Pubitemid 37378556)
47. Beder LB, Gunduz M, Ouchida M, Gunduz E, Sakai A, Fukushima K, Nagatsuka H, Ito S, Honjo N, Nishizaki K and Shimizu K: Identification of a candidate tumor suppressor gene RHOBTB1 located at a novel allelic loss region 10q21 in head and neck cancer. J Cancer Res Clin Oncol 132: 19-27, 2006. (Pubitemid 41712802)
48. Ozisik YY, Meloni AM, Stone JF, Sandberg AA and Surti U: Spontaneous expression of the chromosome fragile site at 10q23 in leiomyoma. Cancer Genet Cytogenet 74: 73-75, 1994.
49. Nakagawachi T, Soejima H, Urano T, Zhao W, Higashimoto K, Satoh Y, Matsukura S, Kudo S, Kitajima Y, Harada H, Furukawa K, Matsuzaki H, Emi M, Nakabeppu Y, Miyazaki K, Sekiguchi M and Mukai T: Silencing effect of CpG island hypermethylation and histone modifications on O6-methylguanine- DNA methyltransferase (MGMT) gene expression in human cancer. Oncogene 22: 8835-8844, 2003.
50. Deveney R, Chervinsky DS, Jani-Sait SN, Grossi M and Aplan PD: Insertion of MLL sequences into chromosome band 5q31 results in an MLL-AF5Q31 fusion and is a rare but recurrent abnormality associated with infant leukemia. Genes Chromosomes Cancer 37: 326-331, 2003. (Pubitemid 36667572)
51. Raimondi SC, Shurtleff SA, Downing JR, Rubnitz J, Mathew S, Hancock M, Pui CH, Rivera GK, Grosveld GC and Behm FG: 12p abnormalities and the TEL gene (ETV6) in childhood acute lymphoblastic leukemia. Blood 90: 4559-4566, 1997.
52. Robinson HM, Taylor KE, Jalali GR, Cheung KL, Harrison CJ and Moorman AV: t(14;19)(q32;q13): a recurrent translocation in B-cell precursor acute lymphoblastic leukemia. Genes Chromosomes Cancer 39: 88-92, 2004.