Case report: Elevated sperm aneuploidy levels in an infertile Robertsonian translocation t(21;21) carrier with possible interchromosomal effect

Journal of Assisted Reproduction and Genetics

Volumn 29, Issue 4, 2012, Pages 343-346

  Rogenhofer, N ^a   Durl S ^b   Ochsenkuhn R ^a   Neusser, M ^b   Aichinger, E ^b   Thaler, C J ^a   Muller S ^b  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b UNIVERSITY OF MUNICH   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ANEUPLOIDY; ARTICLE; BODY MASS; CASE REPORT; CHROMOSOME ANALYSIS; CHROMOSOME TRANSLOCATION 21; HUMAN; HUMAN CELL; MALE; MALE INFERTILITY; PRIORITY JOURNAL; ROBERTSONIAN CHROMOSOME TRANSLOCATION; SEROLOGY; SPERM; SPERMATOZOON ABNORMALITY; SPERMATOZOON COUNT; SPERMATOZOON MOTILITY;

ANEUPLOIDY; CHROMOSOMES, HUMAN, PAIR 21; HETEROZYGOTE; HUMANS; INFERTILITY, MALE; KARYOTYPE; MALE; MOSAICISM; SPERMATOZOA; TRANSLOCATION, GENETIC;

ROBERTSONIA;

EID: 84863192172     PISSN: 10580468     EISSN: 15737330     Source Type: Journal    
DOI: 10.1007/s10815-012-9720-3     Document Type: Article

References (27)

1. Shi Q, Martin RH. Aneuploidy in human spermatozoa: FISH analysis in men with constitutional chromosomal abnormalities, and in infertile men. Reprod. 2001;121(5):655-66. Review. (Pubitemid 32472051)
2. 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):372-9. (Pubitemid 41719760)
3. Vegetti W, Van Assche E, Frias A, Verheyen G, Bianchi MM, Bonduelle M, et al. Correlation between semen parameters and sperm aneuploidy rates investigated by fluorescence in-situ hybridization in infertile men. Hum Reprod. 2000;15(2):351-65. (Pubitemid 30076716)
4. Härkönen K, Suominen J, Lähdetie J. Aneuploidy in spermatozoa of infertile men with teratozoospermia. Int J Androl. 2001;24 (4):197-205. (Pubitemid 32675086)
5. Acar H, Kilinç M, Cora T, Aktan M, Ta?kapu H. Incidence of chromosome 8,10, X and Y aneuploidies in sperm nucleus of infertile men detected by FISH. Urol Int. 2000;64(4):202-8. (Pubitemid 30458959)
6. Johnson MD. Genetic risks of intracytoplasmic sperm injection in the treatment of male infertility: recommendations for genetic counselling and screening. Fertil Steril. 1998;70:397-411. (Pubitemid 28435620)
7. Carrell DT, Wilcox AL, Udoff LC, Thorp C, Campbell B. Chromosome 15 aneuploidy in the sperm and conceptus of a sibling with variable familial expression of round-headed sperm syndrome. Fertil Steril. 2001;76(6):1258-60. (Pubitemid 33116397)
8. Causio F, Fischetto R, Sarcina E, Geusa S, Tartagni M. Chromosome analysis of spontaneous abortions after in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI). Eur J Obstet Gynecol Reprod Biol. 2002;10;105(1):44-8. (Pubitemid 35335319)
9. Li TC, Makris M, Tomsu M, Tuckerman E, Laird S. Recurrent miscarriage: aetiology, management and prognosis. Hum Reprod Update. 2002;8:463-81. (Pubitemid 35175207)
10. Griffin DK, Abruzzo MA, Millie EA, Sheean LA, Feingold E, Sherman SL, Hassold TJ. Non-disjunction in human sperm: evidence for an effect of increasing paternal age. Hum Mol Genet. 1995;4(12):2227-32.
11. Williams BJ, Ballenger CA, Malter HE, Bishop F, Tucker M, Zwingman TA, Hassold TJ. Non-disjunction in human sperm: results of fluorescence in situ hybridization studies using two and three probes. Hum Mol Genet. 1993;2(11):1929-36. (Pubitemid 23326624)
12. Templado C, Vidal F, Estop A. Aneuploidy in human spermatozoa. Cytogenet Genome Res. 2011;133(2-4):91-9.
13. Anton E, Blanco J, Egozcue J, Vidal F. Sperm FISH studies in seven male carriers of Robertsonian translocation t(13;14)(q10; q10). Hum Reprod. 2004;19:1345-51. (Pubitemid 38807706)
14. Kirkpatrick G, Ferguson KA, Gao H, Tang S, Chow V, Yuen BH. A comparison of sperm aneuploidy rates between infertile men with normal and abnormal karyotypes. Hum Reprod. 2008;23 (7):1679-83. (Pubitemid 351809710)
15. Pang MG, Hoegerman SF, Cuticchia AJ, Moon SY, Doncel GF, Acosta AA, Kearns WG. Detection of aneuploidy for chromosomes 4, 6, 7, 8, 9 10, 11, 12, 13, 17, 18, 21, X and Y by fluorescence in situ hybridization in spermatozoa from nine patients with oligoasthenoteratozoospermia undergoing intracytoplasmic sperm injection. Hum Reprod. 1999;14:1266-73. (Pubitemid 29224905)
16. Rives N, Saint Clair A, Mazurier S, Sibert L, Simeon N, Joly G, Mace B. Relationship between clinical phenotype, semen parameters and aneuploidy frequency in sperm nuclei of 50 infertile males. Hum Genet. 1999;105:266-72. (Pubitemid 29440671)
17. Blanco J, Egozcue J, Vidal F. Interchromosomal effect for chromosome 21 in carriers of structural chromosome reorganizations determined by fluorescence in situ hybridization on sperm nuclei. Hum Genet. 2000;106:500-5. (Pubitemid 30406675)
18. Palermo GD, Colombero LT, Hariprashad JJ, Schlegel PN, Rosenwaks Z. Chromosome analysis of epipidymal and testicular sperm in azoospermic patients undergoing ICSI. Hum Reprod. 2002;17:570-5. (Pubitemid 34232422)
19. 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):291-6. (Pubitemid 41414481)
20. Honda H, Miharu N, Ohashi Y, Honda N, Hara T, Ohama K. Analysis of segregation and aneuploidy in two reciprocal translocation carriers, t(3;9)(q26.2;q32) and t(3;9)(p25;q32), by triple-color fluorescence in situ hybridization. Hum Genet. 1999;105:428-36.
21. 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;106:517-24. (Pubitemid 30406677)
22. Oliver-Bonet M, Navarro J, Codina-Pascual M, Abad C, Guitart M, Egozcue J, et al. From spermatocytes to sperm: meiotic behaviour of human male reciprocal translocations. Hum Reprod. 2004;19:2515-22. (Pubitemid 39481276)
23. Chen Y, Huang J, Liu P, Qiao J. Analysis of meiotic segregation patterns and interchromosomal effects in sperm from six males with Robertsonian translocations. J Assist Reprod Genet. 2007;24 (9):406-11. (Pubitemid 47497952)
24. Pfeffer J, Pang MG, Hoegerman SF, Osgood CJ, Stacey MW, Mayer J, et al. Aneuploidy frequencies in semen fractions from ten oligoasthenoteratozoospermic patients donating sperm for intracytoplasmic sperm injection. Fertil Steril. 1999;72:472-8. (Pubitemid 29414888)
25. Calogero AE, De Palma A, Grazioso C, Barone N, Romeo R, Rappazzo G, et al. Aneuploidy rate in spermatozoa of selected men with abnormal semen parameters. Hum Reprod. 2001;16:1172-9. (Pubitemid 32547219)
26. Pellestor F, Imbert I, Andreo B, Lefort G. Study of the occurrence of interchromosomal effect in spermatozoa of chromosomal rearrangement carriers by fluorescence in-situ hybridization and primed in-situ labelling techniques. Hum Reprod. 2001;16:1155-64. (Pubitemid 32544686)
27. Dohle GR, Colpi GM, Hargreave TB, Papp GK, Jungwirth A, Weidner W. EAU working group on male infertility. EAU Guidelines on male infertility. Eur Urol. 2005;48(5):703-11.