ANALYSIS OF MEIOTIC SEGREGATION PATTERNS AND INTERCHROMOSOMAL EFFECTS IN SPERM FROM 13 ROBERTSONIAN TRANSLOCATIONS
Wang B1,*, Nie B1,*, Tang D2,*, Li R3,*, Liu X1, Song J1, Wang W1, Liu Z1,** *These authors contributed equally to this study.
*Corresponding Author: Dr. Zhi Liu, Department of Clinical Laboratory, Hubei Maternal and Child Health Hospital, 745 WuLuo Road, Wuhan, Hubei, People’s Republic of China. Tel: +86-27-8716-9190. Fax: +86-27-8716-9097. E-mail: wangbo1005@163.com.
page: 43

REFERENCES

1. Therman E, Susman B, Denniston C. The nonrandom participation of human acrocentric chromosomes in Robertsonian translocations. Ann Hum Genet. 1989; 53(1): 49-65. 2. Luciani JM, Guichaoua MR, Mattei A, Morazzani MR. Pachytene analysis of a man with a 13q;14q translocation and infertility. Cytogenet Cel Genet. 1984; 38(1): 14-22. 3. Cassuto NG, Le Foll N, Chantot-Bastaraud S, Balet R, Bouret D, Rouen A, et al. Sperm fluorescence in situ hybridization study in nine men carrying a Robertsonian or a reciprocal translocation: Relationship between segregation modes and high-magnification sperm morphology examination. Fertil Steril. 2011; 96(4): 826-832. 4. Sybenga J. Chromosome structural variants. In: Sybenga J, Ed. General Cytogenetics. Amsterdam, The Netherlands: North-Holland Publishing Company 1975: 165-212. 5. Roux C, Tripogney C, Morel F, Joanne C, Fellmann F, Clavequin MC, et al. Segregation of chromosomes in sperm of Robertsonian translocation carriers. Cytogenet Genome Res. 2005; 111(3-4): 291-296. 6. Rives N, Ravel C, Duchesne V, Siffroi JP, MoussetSimeon N, Mace B. Molecular cytogenetics analysis with whole chromosome paint probes of sperm nuclei from a (13;15) Robertsonian translocation carrier. J Hum Genet. 2005; 50(7): 360-364. 7. Anahory T, Hamamah S, Andreo B, Hedon B, Claustres M, Sarda P, et al. Sperm segregation analysis of a (13;22) Robertsonian translocation carrier by FISH: A comparison of locus-specific probe and whole chromosome painting. Hum Reprod. 2005; 20(7): 1850-1854. 8. Moradkhani K, Puechberty J, Bhatt S, Vago P, Janny L, Lefort G, et al. Meiotic segregation of rare Rob-ertsonian translocations: Sperm analysis of three t(14q; 22q) cases. Hum Reprod. 2006; 21(5): 1166-1171. 9. Anton E, Vidal F, Blanco J. Role of sperm FISH studies in the genetic reproductive advice of structural reorganization carriers. Hum Reprod. 2007; 22(8): 2088-2092. 10. Liu Y, Zhu H. Detection of sperm chromosomes in Robertsonian translocation carriers by dual-color fluorescence in situ hybridization. Zhonghua Nan Ke Xue. 2004; 10(2): 90-93. 11. Lejeune J. Autosomal disorders. Pediatrics. 1963; 32(3): 326-337. 12. Douet-Guilbert N, Bris MJ, Amice V, Marchetti C, Delobel B, Amice J, et al. Interchromosomal effect in sperm of males with translocations: Report of 6 cases and review of the literature. Int J Androl. 2005; 28(6): 372-379. 13. Ogur G, Van Assche E, Vegetti W, Verheyen G, Tournaye H, Bonduelle M, et al. Chromosomal segregation in spermatozoa of 14 Robertsonian translocation carriers. Mol Hum Reprod. 2006; 12(3): 209-215. 14. Estop AM, Cieply K, Munne S, Surti U, Wakim A, Feingold E. Is there an interchromosomal effect in reciprocal translocation carriers? Sperm FISH studies. Hum Genet. 2000; 106(5): 517-524. 15. Acar H, Yildirim MS, Cora T, Ceylaner S. Evaluation of segregation patterns of 21;21 Robertsonian translocation along with sex chromosomes and interchromosomal effects in sperm nuclei of carrier by FISH technique. Mol Reprod Dev. 2002; 63(2): 232-236. 16. World Health Organisation. WHO Laboratory Manual for the Examination and Processing of Human Semen, 5th ed. Geneva, Switzerland, 2010. 17. Machev N, Gosset P, Warter S, Treger M, Schillinger M, Viville S. Fluorescence in situ hybridization sperm analysis of six translocation carriers provides evidence of an interchromosomal effect. Fertil Steril. 2005; 84(2): 365-373. 18. Mahjoub M, Mehdi M, Brahem S, Elghezal H, Ibala S, Saad A. Chromosomal segregation in spermatozoa of five Robertsonian translocation carriers t(13;14). J Assist Reprod Genet. 2011; 28(7): 607-613. 19. Rouen A, Pyram K, Pollet-Villard X, Hyon C, Dorna M, Marques S, et al. Simultaneous cell by cell study of both DNA fragmentation and chromosomal segregation in spermatozoa from chromosomal rearrangement carriers. J Assist Reprod Genet. 2013;30(3):383390. doi: 10.1007/ s10815-012-9915-7. 20. Ferfouri F, Selva J, Boitrelle F, Gomes DM, Torre A, AlbertM, et al. The chromosomal risk in sperm from heterozygous Robertsonian translocation carriers is related to the sperm count and the translocation type. Fertil Steril. 2011; 96(6): 1337-1343. 21. Kovac JR, Pastuszak AW, Lamb DJ. The use of genomics, proteomics, and metabolomics in identifying biomarkers of male infertility. Fertil Steril. 2013; 99(4): 998-1007. 22. Luciani JM, Guichaoua MR, Mattei A, Morazzani MR. Pachytene analysis of a man with a 13q;14q translocation and infertility. Behavior of the trivalent and nonrandom association with the sex vesicle. Cytogenet Cell Genet. 1984; 38(1): 14-22. 23. Navarro J, Vidal F, Benet J, Templado C, Marinas Egozcue J. XY-trivalent association and synaptic anomalies in a male carrier of a Robertsonian t(13;14) translocation. Hum Reprod. 1991; 6(3): 376-381. 24. Morel F, Douet-Guilbert N, Le Bris MJ, Herry A, Amice V, Amice J, et al. Meiotic segregation of translocations during male gametogenesis. Int J Androl. 2004; 27(4): 200-212. 25. Dallapiccola B, Ferranti G, Altissimi D, Colloridi F, Paesano R. First-trimester prenatal diagnosis of homozygous (14;21) translocation in a fetus with 44 chromosomes. Prenat Diagn. 1989; 9(8): 555-558. 26. Martinez-Castro P, Ramos MC, Rey JA, Benitez J, Sanchez Cascos A. Homozygosity for a Robertsonian-translocation (13q14q) in three offspring of heterozygous parents. Cytogenet Cell Genet. 1984; 38(4): 310-312. 27. Rajangam S, Michaelis RC, Velagaleti GV, Lincoln S, Hegde S, Lewin S, et al. Down syndrome with biparental inheritance of der(14q21q) and maternally derived trisomy 21: Confirmation by fluorescent in situ hybridization and microsatellite polymorphism analysis. Am J Med Genet Part A. 1997; 70(1): 43-47. 28. Wang W, Lan H. Rapid and parallel chromosomal number reductions in muntjac deer inferred from mitochondrial DNA phylogeny. Mol Biol Evol. 2000; 17(9): 1326-1333. 29. Lindenbaum RH, Hulten M, McDermott A, Seabright M. The prevalence of translocations in parents of children with regular trisomy 21: A possible interchromosomal effect? J Med Genet. 1985; 22(1): 24-28. 30. Britton-Davidian J, Catalan J, da Graça Ramalhinho M, Ganem G, Auffray JC, Capela R, et al. Rapid chromosomal evolution in island mice. Nature. 2000; 403(6766): 158. 31. Bint SM, Makie Ogilvie C, Flinter FA, Khalaf Y, Scriven PN. Meiotic segregation of Robertsonian translocations ascertained in cleavage-stage embryos — Implications for preimplantation genetic diagnosis. Hum Reprod. 2011: 26(6): 1575-1584. 32. Bernicot I, Schneider A, Mace A, Hamamah S, Hedon B, Pellestor F, et al. Analysis using fish of sperm and embryos from two carriers of rare rob(13;21) and rob(15; 22) robertsonian translocation undergoing PGD. Eur J Med Genet. 2012; 55(4?): 245-251. 33. Fischer J, Colls P, Escudero T, Munne S. Preim-plantation genetic diagnosis (PGD) improves pregnancy outcome for translocation carriers with a history of recurrent losses. Fertil Steril. 2010; 94(1): 283-289. 34. Jin H, Ping L, Jie Q, Ying L, Jongjian C. Translocation chromosome karyotypes of the Robertsonian trans-location carriers’ embryos. Fertil Steril. 2010; 93(4): 1061-1065. 35. John B. Chromosome change and evolutionary change: A critique. In: Atchley WR, Woodruff DS, Eds. Evolution and Specification: Essays in Honor of M.J.D. White. London, UK: Cambridge University Press. 1981: 23-51. 36. Wang B, Xia Y, Song J, Wang W, Tang Y. Potential speciation in humans involving Robertsonian translocations. Biomed Res. 2013; 24(1): 171-174



Number 27
VOL. 27 (2), 2024
Number 27
VOL. 27 (1), 2024
Number 26
Number 26 VOL. 26(2), 2023 All in one
Number 26
VOL. 26(2), 2023
Number 26
VOL. 26, 2023 Supplement
Number 26
VOL. 26(1), 2023
Number 25
VOL. 25(2), 2022
Number 25
VOL. 25 (1), 2022
Number 24
VOL. 24(2), 2021
Number 24
VOL. 24(1), 2021
Number 23
VOL. 23(2), 2020
Number 22
VOL. 22(2), 2019
Number 22
VOL. 22(1), 2019
Number 22
VOL. 22, 2019 Supplement
Number 21
VOL. 21(2), 2018
Number 21
VOL. 21 (1), 2018
Number 21
VOL. 21, 2018 Supplement
Number 20
VOL. 20 (2), 2017
Number 20
VOL. 20 (1), 2017
Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006