Sperm aneuploidy in infertile male patients: A systematic review of the literature

Andrologia

Volumn 47, Issue 8, 2015, Pages 847-860

  Chatziparasidou, A ^a   Christoforidis, N ^a   Samolada, G ^a   Nijs, M ^a  

^a Embryolab Assisted Reproduction Unit   (Greece)

Author keywords

Chromosomal abnormalities; Male infertility; Sperm aneuploidy

Indexed keywords

CIGARETTE SMOKE; DIAZEPAM;

ALCOHOL CONSUMPTION; ANEUPLOIDY; AZOOSPERMIA; CHROMOSOME 18; CHROMOSOME 21; CHROMOSOME ABERRATION; CHROMOSOME REARRANGEMENT; CHROMOSOME SEGREGATION; CRYPTORCHISM; DECISION MAKING; DNA FRAGMENTATION; DRUG EXPOSURE; ENVIRONMENTAL EXPOSURE; ENVIRONMENTAL FACTOR; GENETIC COUNSELING; GENOTYPE PHENOTYPE CORRELATION; HODGKIN DISEASE; HUMAN; INFERTILITY THERAPY; KLINEFELTER SYNDROME; MALE INFERTILITY; OCCUPATIONAL EXPOSURE; OLIGOSPERMIA; PREGNANCY OUTCOME; PROGNOSIS; REVIEW; RISK ASSESSMENT; ROBERTSONIAN CHROMOSOME TRANSLOCATION; SEX CHROMOSOME ABERRATION; SPERM ANEUPLOIDY; SPERMATOGENESIS; SPERMATOZOON DENSITY; SPERMATOZOON MOTILITY; SPINAL CORD INJURY; SPONTANEOUS ABORTION; SUBFERTILITY; SUPERNUMERARY CHROMOSOME; SYSTEMATIC REVIEW; TESTIS CANCER; Y CHROMOSOME; CONGENITAL MALFORMATION; GENETICS; INFERTILITY, MALE; KARYOTYPE; MALE; RISK FACTOR; SPERMATOZOON;

ANEUPLOIDY; HUMANS; INFERTILITY, MALE; KARYOTYPE; MALE; RISK FACTORS; SPERMATOZOA;

EID: 84940871570     PISSN: 03034569     EISSN: 14390272     Source Type: Journal    
DOI: 10.1111/and.12362     Document Type: Review

References (163)

1. Acar H, Kilinc M, Guven S, Yurdakul T, Celik R (2009) Comparison of semen profile and frequency of chromosome aneuploidies in sperm nuclei of patients with varicocele before and after varicocelectomy. Andrologia 41:157-162.
2. Agarwal A, Said TM (2003) Role of sperm chromatin abnormalities and DNA damage in male infertility. Hum Reprod Update 9:331-345.
3. Aitken RJ (2013) Human spermatozoa: revelations on the road to conception. F1000Prime Rep 5: 39.
4. Alfarawati S, Fragouli E, Colls P, Wells D (2012) Embryos of robertsonian translocation carriers exhibit a mitotic interchromosomal effect that enhances genetic instability during early development. PLoS Genet 8:e1003025.
5. Alukal JP, Lamb DJ (2008) Intracytoplasmic sperm injection (ICSI)-what are the risks? Urol Clin North Am 35:277-288.
6. Anton E, Blanco J, Egozcue J, Vidal F (2005) Sperm studies in heterozygote inversion carriers: a review. Cytogenet Genome Res 111:297-304.
7. Anton E, Vidal F, Blanco J (2007) Role of sperm FISH studies in the genetic reproductive advice of structural reorganization carriers. Hum Reprod 22:2088-2092.
8. Anton E, Vidal F, Blanco J (2008) Reciprocal translocations: tracing their meiotic behavior. Genet Med 10:730-738.
9. Anton E, Vidal F, Blanco J (2011) Interchromosomal effect analyses by sperm FISH: incidence and distribution among reorganization carriers. Syst Biol Reprod Med 57:268-278.
10. Arnedo N, Templado C, Sánchez-Blanque Y, Rajmil O, Nogués C (2006) Sperm aneuploidy in fathers of Klinefelter's syndrome offspring assessed by multicolour fluorescent in situ hybridization using probes for chromosomes 6, 13, 18, 21, 22, X and Y. Hum Reprod 21:524-528.
11. Baccetti B, Collodel G, Gambera L, Moretti E, Serafini F, Piomboni P (2005) Fluorescence in situ hybridization and molecular studies in infertile men with dysplasia of the fibrous sheath. Fertil Steril 84:123-129.
12. Baccetti BM, Bruni E, Capitani S, Collodel G, Mancini S, Piomboni P, Moretti E (2006) Studies on varicocele III: ultrastructural sperm evaluation and 18, X and Y aneuploidies. J Androl 27:94-101.
13. Barratt CL, De Jonge CJ (2010) Clinical relevance of sperm DNA assessment: an update. Fertil Steril 94:1958-1959.
14. Bartoov B, Berkovitz A, Eltes F, Kogosowski A, Menezo Y, Barak Y (2002) Real-time fine morphology of motile human sperm cells is associated with IVF-ICSI outcome. J Androl 23:1-8.
15. Bartoov B, Berkovitz A, Eltes F, Kogosovsky A, Yagoda A, Lederman H, Artzi S, Gross M, Barak Y (2003) Pregnancy rates are higher with intracytoplasmic morphologically selected sperm injection than with conventional intracytoplasmic injection. Fertil Steril 80:1413-1419.
16. Baumgartner A, Schmid TE, Schuetz CG, Adler ID (2001) Detection of aneuploidy in rodent and human sperm by multicolor FISH after chronic exposure to diazepam. Mutat Res 25:11-19.
17. Benet J, Martin RH (1988) Sperm chromosome complements in a 47, XYY man. Hum Genet 78:313-315.
18. Benet J, Oliver-Bonet M, Cifuentes P, Templado C, Navarro J (2005) Segregation of chromosomes in sperm of reciprocal translocation carriers: a review. Cytogenet Genome Res 111:281-290.
19. Blanco J, Gabau E, Gómez D, Baena N, Guitart M, Egozcue J, Vidal F (1998) Chromosome 21 disomy in the spermatozoa of the fathers of children with trisomy 21, in a population with a high prevalence of Down syndrome: increased incidence in cases of paternal origin. Am J Hum Genet 63:1067-1072.
20. Blanco J, Egozcue J, Vidal F (2001) Meiotic behaviour of the sex chromosomes in three patients with sex chromosome anomalies (47, XXY, mosaic 46, XY/47, XXY and 47, XYY) assessed by fluorescence in-situ hybridization. Hum Reprod 16:887-892.
21. Bosch M, Rajmil O, Egozcue J, Templado C (2003) Linear increase of structural and numerical chromosome 9 abnormalities in human sperm regarding age. Eur J Hum Genet 11:754-759.
22. Brahem S, Elghezal H, Ghghez H, Landolsi H, Amara A, Ibala S, Gribaa M, Saad A, Mehdi M (2011a) Cytogenetic and molecular aspects of absolute teratozoospermia: comparison between polymorphic and monomorphic forms. Urology 78:1313-1319.
23. Brahem S, Mehdi M, Elghezal H, Saad A (2011b) The effects of male aging on semen quality, sperm DNA fragmentation and chromosomal abnormalities in an infertile population. J Assist Reprod Genet 28:425-432.
24. Brahem S, Mehdi M, Elghezal H, Saad A (2012) Study of aneuploidy rate and sperm DNA fragmentation in large-headed, multiple-tailed spermatozoa. Andrologia 44:130-135.
25. Brahem S, Letaief K, Ben Ali H, Saad A, Mehdi M (2013) Efficacy of the density gradient centrifugation method in eliminating sperm with aneuploidy. Andrologia 45:158-162.
26. Bronet F, Martinez E, Gaytan M, Linan A, Cernuda D, Ariza M, Nogales M, Pacheco A, San Celestino M, Garcia-Velasco JA (2012) Sperm DNA fragmentation index does not correlate with the sperm or embryo aneuploidy rate in recurrent miscarriage or implantation failure patients. Hum Reprod 27:1922-1929.
27. Brugnon F, Van Assche E, Verheyen G, Sion B, Boucher D, Pouly JL, Janny L, Devroey P, Liebaers I, Van Steirteghem A (2006) Study of two markers of apoptosis and meiotic segregation in ejaculated sperm of chromosomal translocation carrier patients. Hum Reprod 21:685-693.
28. Burrello N, Vicari E, La Vignera S, Romeo G, Campagna C, Magro E, Giuffrida D, D'Agata R, Calogero AE (2011) Effects of anti-neoplastic treatment on sperm aneuploidy rate in patients with testicular tumor: a longitudinal study. J Endocrinol Invest 34:e121-e125.
29. Bush B, Bennett AH, Snow JT (1986) Polychlorobiphenyl congeners, p, p'-DDE, and sperm function in humans. Arch Environ Contam Toxicol 15:333-341.
30. Buwe A, Guttenbach M, Schmid M (2005) Effect of paternal age on the frequency of cytogenetic abnormalities in human spermatozoa. Cytogenet Genome Res 111:213-228.
31. Carrell DT (2007) The genetics of male infertility. Homana Press, Totowa, NJ.
32. Cavallini G, Magli MC, Crippa A, Ferraretti AP, Gianaroli L (2012) Reduction in sperm aneuploidy levels in severe oligoasthenoteratospermic patients after medical therapy: a preliminary report. Asian J Androl 14:591-598.
33. Chelli MH, Ferfouri F, Boitrelle F, Albert M, Molina-Gomes D, Selva J, Vialard F (2013) High-magnification sperm selection does not decrease the aneuploidy rate in patients who are heterozygous for reciprocal translocations. J Assist Reprod Genet 30:525-530.
34. Choy JT, Brannigan RE (2013) The determination of reproductive safety in men during and after cancer treatment. Fertil Steril 100:1187-1191.
35. Chung E, Brock GB (2011) Cryptorchidism and its impact on male fertility: a state of art review of current literature. Can Urol Assoc J 5:210-214.
36. Collodel G, Capitani S, Baccetti B, Pammolli A, Moretti E (2007a) Sperm aneuploidies and low progressive motility. Hum Reprod 22:1893-1898.
37. Collodel G, Cosci I, Pascarelli AN, Moretti E (2007b) Sperm ultrastructure and 18, X, Y aneuploidies in a man with a 46 XY, 47 XY + 18 mosaic karyotype: case report. J Assist Reprod Genet 24:373-376.
38. Collodel G, Scapigliati G, Moretti E (2007c) Spermatozoa and chronic treatment with finasteride: a TEM and FISH study. Arch Androl 53:229-233.
39. Collodel G, Giannerini V, Antonio Pascarelli N, Federico MG, Comodo F, Moretti E (2009) TEM and FISH studies in sperm from men of couples with recurrent pregnancy loss. Andrologia 41:352-360.
40. Dada R, Gupta NP, Kucheria K (2006) Cytogenetic and molecular analysis of male infertility: Y chromosome deletion during nonobstructive azoospermia and severe oligozoospermia. Cell Biochem Biophys 44:171-177.
41. Dayal MB, Gindoff PR, Zarek S, Peak D, Dubey A, Frankfurter D (2010) Profound teratospermia does not influence sex chromosomal aneuploidy rate in in vitro fertilization-preimplantation genetic diagnosis cycles. Fertil Steril 93:666-668.
42. De Jonge C, Barratt C (2006) The Sperm Cell. Cambridge University Press, Cambridge.
43. Dong Y, Du RC, Jiang YT, Wu J, Li LL, Liu RZ (2012) Impact of chromosomal translocations on male infertility, semen quality, testicular volume and reproductive hormone levels. J Int Med Res 40:2274-2283.
44. Douet-Guilbert N, Bris MJ, Amice V, Marchetti C, Delobel B, Amice J, Braekeleer MD, Morel F (2005) Interchromosomal effect in sperm of males with translocations: report of 6 cases and review of the literature. Int J Androl 28:372-379.
45. Dubey A, Dayal MB, Frankfurter D, Balazy P, Peak D, Gindoff PR (2008) The influence of sperm morphology on preimplantation genetic diagnosis cycles outcome. Fertil Steril 89:1665-1669.
46. Durak Aras B, Aras I, Can C, Toprak C, Dikoglu E, Bademci G, Ozdemir M, Cilingir O, Artan S (2012) Exploring the relationship between the severity of oligozoospermia and the frequencies of sperm chromosome aneuploidies. Andrologia 44:416-422.
47. Enciso M, Alfarawati S, Wells D (2013) Increased numbers of DNA-damaged spermatozoa in samples presenting an elevated rate of numerical chromosome abnormalities. Hum Reprod 28:1707-1715.
48. Eskenazi B, Wyrobek AJ, Kidd SA, Lowe X, Moore D II, Weisiger K, Aylstock M (2002) Sperm aneuploidy in fathers of children with paternally and maternally inherited Klinefelter syndrome. Hum Reprod 17:576-583.
49. Esteves SC, Varghese AC (2012) Laboratory handling of epididymal and testicular spermatozoa: what can be done to improve sperm injections outcome. J Hum Reprod Sci 5:233-243.
50. Evenson DP, Darzynkiewicz Z, Melamed MR (1980) Relation of mammalian sperm chromatin heterogeneity to fertility. Science 210:1131-1133.
51. Ferfouri F, Selva J, Boitrelle F, Gomes DM, Torre A, Albert M, Bailly M, Clement P, Vialard F (2011) The chromosomal risk in sperm from heterozygous Robertsonian translocation carriers is related to the sperm count and the translocation type. Fertil Steril 96:1337-1343.
52. Ferlin A, Foresta C (2014) New genetic markers for male infertility. Curr Opin Obstet Gynecol 26:193-198.
53. Ferlin A, Garolla A, Foresta C (2005) Chromosome abnormalities in sperm of individuals with constitutional sex chromosomal abnormalities. Cytogenet Genome Res 111:310-316.
54. Ferlin A, Arredi B, Speltra E, Cazzadore C, Selice R, Garolla A, Lenzi A, Foresta C (2007) Molecular and clinical characterization of Y chromosome microdeletions in infertile men: a 10-year experience in Italy. J Clin Endocrinol Metab 92:762-770.
55. Figueira R, Braga D, Setti AM, Iaconelli A, Borges E (2011) Morphological nuclear integrity of sperm cells is associated with preimplantation genetic aneuploidy screening cycle outcomes. Fertil Steril 95:990-993.
56. Fonseka KG, Griffin DK (2011) Is there a paternal age effect for aneuploidy? Cytogenet Genome Res 133:280-291.
57. Frydman N, Romana S, Le Lorc'h M, Vekemans M, Frydman R, Tachdjian G (2001) Assisting reproduction of infertile men carrying a Robertsonian translocation. Hum Reprod 16:2274-2277.
58. Fullerton G, Hamilton M, Maheshwari A (2010) Should non-mosaic Klinefelter syndrome men be labelled as infertile in 2009? Hum Reprod 25:588-597.
59. Garolla A, Fortini D, Menegazzo M, De Toni L, Nicoletti V, Moretti A, Selice R, Engl B, Foresta C (2008) High-power microscopy for selecting spermatozoa for ICSI by physiological status. Reprod Biomed Online 17:610-616.
60. Geneix A, Schubert B, Force A, Rodet K, Briançon G, Boucher D (2002) Sperm analysis by FISH in a case of t(17; 22) (q11; q12) balanced translocation: case report. Hum Reprod 17:325-331.
61. Ghedir H, Mehri A, Mehdi M, Brahem S, Saad A, Ibala-Romdhane S (2014) Meiotic segregation and sperm DNA fragmentation in Tunisian men with dysplasia of the fibrous sheath (DFS) associated with head abnormalities. J Assist Reprod Genet 31:1167-1174.
62. Giltay JC, van Golde RJ, Kastrop PM (2000) Analysis of spermatozoa from seven ICSI males with constitutional sex chromosomal abnormalities by fluorescent in situ hybridization. J Assist Reprod Genet 17:151-155.
63. Gole LA, Wong PF, Ng PL, Wang XQ, Ng SC, Bongso A (2001) Does sperm morphology play a significant role in increased sex chromosomal disomy? A comparison between patients with teratozoospermia and OAT by FISH. J Androl 22:759-763.
64. Gonsalves J, Sun F, Schlegel PN, Turek PJ, Hopps CV, Greene C, Martin RH, Pera RA (2004) Defective recombination in infertile men. Hum Mol Genet 13:2875-2883.
65. Gonzalez-Merino E, Hans C, Abramowicz M, Englert Y, Emiliani S (2007) Aneuploidy study in sperm and preimplantation embryos from nonmosaic 47, XYY men. Fertil Steril 88:600-606.
66. Grasso M, Buonaguidi A, Lania C, Bergamaschi F, Castelli M, Rigatti P (1991) Postpubertal cryptorchidism: review and evaluation of the fertility. Eur Urol 20:126-128.
67. Härkönen K, Viitanen T, Larsen SB, Bonde JP, Lähdetie J (1999) Aneuploidy in sperm and exposure to fungicides and lifestyle factors. Asclepios. A European concerted action on Occupational Hazards to male reproductive capability. Environ Mol Mutagen 34:39-46.
68. Harton GL, Tempest HG (2012) Chromosomal disorders and male infertility. Asian J Androl 14:32-39.
69. Hassold T, Hunt PA, Sherman S (1993) Trisomy in humans: incidence, origin and etiology. Curr Opin Genet Dev 3:398-403.
70. Hixon M, Millie E, Judis LA, Sherman S, Allran K, Taft L, Hassold T (1998) FISH studies of the sperm of fathers of paternally derived cases of trisomy 21: no evidence for an increase in aneuploidy. Hum Genet 103:654-657.
71. Holma PK (1977) Effects of anabolic steroid (metandienone) on spermatogenesis. Contraception 15:151-162.
72. Holmes JM, Martin RH (1993) Aneuploidy detection in human sperm nuclei using fluorescence in situ hybridization. Hum Genet 91:20-24.
73. Hristova R, Ko E, Greene C, Rademaker A, Chernos J, Martin R (2002) Chromosome abnormalities in sperm from infertile men with asthenoteratozoospermia. Biol Reprod 66:1781-1783.
74. Hwang K, Weedin JW, Lamb DJ (2010) The use of fluorescent in situ hybridization in male infertility. Ther Adv Urol 2:157-169.
75. Jakab A, Sakkas D, Delpiano E, Cayli S, Kovanci E, Ward D, Revelli A, Huszar G, Huszar G (2005) Intracytoplasmic sperm injection: a novel selection method for sperm with normal frequency of chromosomal aneuploidies. Fertil Steril 84:1665-1673.
76. Jurewicz J, Radwan M, Sobala W, Ligocka D, Radwan P, Bochenek M, Hawula W, Jakubowski L, Hanke W (2013) Human urinary phthalate metabolites level and main semen parameters, sperm chromatin structure, sperm aneuploidy and reproductive hormones. Reprod Toxicol 42:232-241.
77. Kahraman S, Sertyel S, Findikli N, Kumtepe Y, Oncu N, Melil S, Unal S, Yelke H, Vanderzwalmen P (2004) Effect of PGD on implantation and ongoing pregnancy rates in cases with predominantly macrocephalic spermatozoa. Reprod Biomed Online 9:79-85.
78. Kim KH, Lee JY, Kang DH, Lee H, Seo JT, Cho KS (2013) Impact of surgical varicocele repair on pregnancy rate in subfertile men with clinical varicocele and impaired semen quality: a meta-analysis of randomized clinical trials. Korean J Urol 54:703-709.
79. Kirkpatrick G, Ma S (2012) Meiotic segregation and interchromosomal effects in a rare (1:2:10) complex chromosomal rearrangement. J Assist Reprod Genet 29:77-81.
80. Kumar D, Salian SR, Kalthur G, Uppangala S, Kumari S, Challapalli S, Chandraguthi SG, Krishnamurthy H, Jain N, Kumar P, Adiga SK (2013) Semen abnormalities, sperm DNA damage and global hypermethylation in health workers occupationally exposed to ionizing radiation. PLoS ONE 8:e69927.
81. Levron J, Aviram-Goldring A, Madgar I, Raviv G, Barkai G, Dor J (2001) Sperm chromosome abnormalities in men with severe male factor infertility who are undergoing in vitro fertilization with intracytoplasmic sperm injection. Fertil Steril 76:479-484.
82. Loup V, Bernicot I, Janssens P, Hedon B, Hamamah S, Pellestor F, Anahory T (2010) Combined FISH and PRINS sperm analysis of complex chromosome rearrangement t(1;19;13): an approach facilitating PGD. Mol Hum Reprod 16:111-116.
83. Lu S, Zong C, Fan W, Yang M, Li J, Chapman AR, Zhu P, Hu X, Xu L, Yan L, Bai F, Qiao J, Tang F, Li R, Xie XS (2012) Probing meiotic recombination and aneuploidy of single sperm cells by whole-genome sequencing. Science 338:1627-1630.
84. Ludwig M (2005) Is there an increased risk of malformations after assisted reproductive technologies? Reprod Biomed Online 10(Suppl 3):83-89.
85. Maiburg M, Repping S, Giltay J (2012) The genetic origin of Klinefelter syndrome and its effect on spermatogenesis. Fertil Steril 98:253-260.
86. Malan V, Pipiras E, Sifer C, Kanafani S, Cedrin-Durnerin I, Martin-Pont B, Hugues JN, Wolf JP, Benzacken B (2006) Chromosome segregation in an infertile man carrying a unique pericentric inversion, inv(21)(p12q22.3), analysed using fluorescence in situ hybridization on sperm nuclei: significance for clinical genetics. A case report. Hum Reprod 21:2052-2056.
87. Marchetti F, Eskenazi B, Weldon RH, Li G, Zhang L, Rappaport SM, Schmid TE, Xing C, Kurtovich E, Wyrobek AJ (2012) Occupational exposure to benzene and chromosomal structural aberrations in the sperm of Chinese men. Environ Health Perspect 120:229-234.
88. Martin RH, Spriggs EL (1995) Sperm chromosome complements in a man heterozygous for a reciprocal translocation 46, XY, t(9;13)(q21.1;q21.2) and a review of the literature. Clin Genet 47:42-46.
89. Martínez-Pasarell O, Nogués C, Bosch M, Egozcue J, Templado C (1999) Analysis of sex chromosome aneuploidy in sperm from fathers of Turner syndrome patients. Hum Genet 104:345-349.
90. Mateu E, Rodrigo L, Martínez MC, Peinado V, Milán M, Gil-Salom M, Martínez-Jabaloyas JM, Remohí J, Pellicer A, Rubio C (2010) Aneuploidies in embryos and spermatozoa from patients with Y chromosome microdeletions. Fertil Steril 94:2874-2877.
91. McAuliffe ME, Williams PL, Korrick SA, Altshul LM, Perry MJ (2012a) Environmental exposure to polychlorinated biphenyls and p, p'-DDE and sperm sex-chromosome disomy. Environ Health Perspect 120:535-540.
92. McAuliffe ME, Williams PL, Korrick SA, Dadd R, Perry MJ (2012b) The association between sperm sex chromosome disomy and semen concentration, motility and morphology. Hum Reprod 27:2918-2926.
93. Menezo Y, Evenson D, Cohen M, Dale B (2014) Effect of antioxidants on sperm genetic damage. Adv Exp Med Biol 791:173-189.
94. Mongkolchaipak S, Vutyavanich T (2013) No difference in high-magnification morphology and hyaluronic acid binding in the selection of euploid spermatozoa with intact. DNA Asian J Androl 15:421-424.
95. Morel F, Douet-Guilbert N, Moerman A, Duban B, Marchetti C, Delobel B, Le Bris MJ, Amice V, De Braekeleer M (2004) Chromosome aneuploidy in the spermatozoa of two men with globozoospermia. Mol Hum Reprod 10:835-838.
96. Morel F, Laudier B, Guérif F, Couet ML, Royère D, Roux C, Bresson JL, Amice V, De Braekeleer M, Douet-Guilbert N (2007) Meiotic segregation analysis in spermatozoa of pericentric inversion carriers using fluorescence in-situ hybridization. Hum Reprod 22:136-141.
97. Moretti E, Collodel G, La Marca A, Piomboni P, Scapigliati G, Baccetti B (2007a) Structural sperm and aneuploidies studies in a case of spermatogenesis recovery after the use of androgenic anabolic steroids. J Assist Reprod Genet 24:195-198.
98. Moretti E, Di Cairano G, Capitani S, Scapigliati G, Baccetti B, Collodel G (2007b) Cryptorchidism and semen quality: a TEM and molecular study. J Androl 28:194-199.
99. Mougou-Zerelli S, Brahem S, Kammoun M, Jerbi M, Elghezal H, Ajina M, Saad A (2011) Detection of aneuploidy rate for chromosomes X, Y and 8 by fluorescence in-situ hybridization in spermatozoa from patients with severe non-obstructive oligozoospermia. J Assist Reprod Genet 28:971-977.
100. Muriel L, Goyanes V, Segrelles E, Gosálvez J, Alvarez JG, Fernández JL (2007) Increased aneuploidy rate in sperm with fragmented DNA as determined by the sperm chromatin dispersion (SCD) test and FISH analysis. J Androl 28:38-49.
101. Naccarati A, Zanello A, Landi S, Consigli R, Migliore L (2003). Sperm-FISH analysis and human monitoring: a study on workers occupationally exposed to styrene. Mutat Res. 537:131-140.
102. Ogur G, Van Assche E, Vegetti W, Verheyen G, Tournaye H, Bonduelle M, Van Steirteghem A, Liebaers I (2006) Chromosomal segregation in spermatozoa of 14 Robertsonian translocation carriers. Mol Hum Reprod 12:209-215.
103. Pacchierotti F, Adler ID, Eichenlaub-Ritter U, Mailhes JB (2007) Gender effects on the incidence of aneuploidy in mammalian germ cells. Environ Res 104:46-69.
104. Palermo G, Joris H, Devroey P, Van Steirteghem AC (1992) Pregnancies after intracytoplasmic injection of single spermatozoon into an oocyte. Lancet 340:17-18.
105. Pastuszak AW, Lamb DJ (2012) The genetics of male fertility-from basic science to clinical evaluation. J Androl 33:1075-1084.
106. Perrin A, Morel F, Moy L, Colleu D, Amice V, De Braekeleer M (2008) Study of aneuploidy in large-headed, multiple-tailed spermatozoa: case report and review of the literature. Fertil Steril 90:1201.e13-1201.e17.
107. Perrin A, Douet-Guilbert N, Le Bris MJ, May-Panloup P, Guichet A, Amice V, Amice J, De Braekeleer M, Morel F (2009) Increased aneuploidy rates in spermatozoa of a male carrier of a trisomy 18 mosaicism. Int J Androl 32:231-234.
108. Perrin A, Basinko A, Douet-Guilbert N, Gueganic N, Le Bris MJ, Amice V, De Braekeleer M, Morel F (2011a) Aneuploidy and DNA fragmentation in sperm of carriers of a constitutional chromosomal abnormality. Cytogenet Genome Res 133:100-106.
109. Perrin A, Louanjli N, Ziane Y, Louanjli T, Le Roy C, Gueganic N, Amice V, De Braekeleer M, Morel F (2011b) Study of aneuploidy and DNA fragmentation in gametes of patients with severe teratozoospermia. Reprod Biomed Online 22:148-154.
110. Perrin A, Coat C, Nguyen MH, Talagas M, Morel F, Amice J, De Braekeleer M (2013) Molecular cytogenetic and genetic aspects of globozoospermia: a review. Andrologia 45:1-9.
111. Perry MJ (2008) Effects of environmental and occupational pesticide exposure on human sperm: a systematic review. Hum Reprod Update 14:233-242.
112. Piomboni P, Serafini F, Gambera L, Musacchio C, Collodel G, Morgante G, De Leo V (2009) Sperm aneuploidies after human recombinant follicle stimulating hormone therapy in infertile males. Reprod Biomed Online 18:622-629.
113. Plastira K, Msaouel P, Angelopoulou R, Zanioti K, Plastiras A, Pothos A, Bolaris S, Paparisteidis N, Mantas D (2007) The effects of age on DNA fragmentation, chromatin packaging and conventional semen parameters in spermatozoa of oligoasthenoteratozoospermic patients. J Assist Reprod Genet 24:437-443.
114. Qiu Y, Wang LG, Zhang LH, Li J, Zhang AD, Zhang MH (2012a) Sperm chromosomal aneuploidy and DNA integrity of infertile men with anejaculation. J Assist Reprod Genet 29:185-194.
115. Qiu Y, Wang LG, Zhang LH, Zhang AD, Wang ZY (2012b) Quality of sperm obtained by penile vibratory stimulation and percutaneous Vasal sperm aspiration in Men with spinal Cord injury. J Androl 33:1036-1046.
116. Rimm AA, Katayama AC, Diaz M, Katayama KP (2004) A meta-analysis of controlled studies comparing major malformation rates in IVF and ICSI infants with naturally conceived children. J Assist Reprod Genet 21:437-443.
117. Robbins WA, Vine MF, Truong KY, Everson RB (1997) Use of fluorescence in situ hybridization (FISH) to assess effects of smoking, caffeine, and alcohol on aneuploidyload in sperm of healthy men. Environ Mol Mutagen 30:175-183.
118. Robbins WA, Elashoff DA, Xun L, Jia J, Li N, Wu G, Wei F (2005) Effect of lifestyle exposures on sperm aneuploidy. Cytogenet Genome Res 111:371-377.
119. Rodrigo L, Rubio C, Peinado V, Villamón R, Al-Asmar N, Remohí J, Pellicer A, Simón C, Gil-Salom M (2011) Testicular sperm from patients with obstructive and nonobstructive azoospermia: aneuploidy risk and reproductive prognosis using testicular sperm from fertile donors as control samples. Fertil Steril 1:1005-1012.
120. Rogenhofer N, Dürl S, Ochsenkühn R, Neusser M, Aichinger E, Thaler CJ, Müller S (2012) Case report: elevated sperm aneuploidy levels in an infertile Robertsonian translocation t(21;21) carrier with possible interchromosomal effect. J Assist Reprod Genet 29:343-346.
121. Rubes J, Lowe X, Moore D II, Perreault S, Slott V, Evenson D, Selevan SG, Wyrobek AJ (1998) Smoking cigarettes is associated with increased sperm disomy in teenage men. Fertil Steril 70:715-723.
122. Rubes J, Vozdova M, Robbins WA, Rezacova O, Perreault SD, Wyrobek AJ (2002) Stable variants of sperm aneuploidy among healthy men show associations between germinal and somatic aneuploidy. Am J Hum Genet 70:1507-1519.
123. Rubes J, Vozdova M, Oracova E, Perreault SD (2005) Individual variation in the frequency of sperm aneuploidy in humans. Cytogenet Genome Res 111:229-236.
124. Rubio C, Simón C, Blanco J, Vidal F, Mínguez Y, Egozcue J, Crespo J, Remohí J, Pellicer A (1999) Implications of sperm chromosome abnormalities in recurrent miscarriage. J Assist Reprod Genet 16:253-258.
125. Rudak E, Jacobs PA, Yanagimachi R (1978) Direct analysis of the chromosome constitution of human spermatozoa. Nature 274:911-913.
126. Sánchez-Castro M, Jiménez-Macedo AR, Sandalinas M, Blanco J (2009) Prognostic value of sperm fluorescence in situ hybridization analysis over PGD. Hum Reprod 24:1516-1521.
127. Sarrate Z, Vidal F, Blanco J (2010) Role of sperm fluorescent in situ hybridization studies in infertile patients: indications, study approach, and clinical relevance. Fertil Steril 93:1892-1902.
128. Sciurano RB, Hisano LCV, Rahn MI, Brugo Olmedo S, Rey Valzacchi G, Coco R, Solari AJ (2009) Focal spermatogenesis originates in euploid germ cells in classical Klinefelter patients. Hum Reprod 24:2353-2360.
129. Seiringer M, Maurer M, Shebl O, Dreier K, Tews G, Ziehr S, Schappacher-Tilp G, Petek E, Ebner T (2013) Efficacy of a sperm-selection chamber in terms of morphology, aneuploidy and DNA packaging. Reprod Biomed Online 27:81-88.
130. Shi Q, Martin RH (2000) Aneuploidy in human sperm: a review of the frequency and distribution of aneuploidy, effects of donor age and lifestyle factors. Cytogenet Cell Genet 90:219-226.
131. Shi Q, Martin RH (2001) Aneuploidy in human spermatozoa: FISH analysis in men with constitutional chromosomal abnormalities, and in infertile men. Reproduction 121:655-666.
132. Shi Q, Ko E, Barclay L, Hoang T, Rademaker A, Martin R (2001) Cigarette smoking and aneuploidy in human sperm. Mol Reprod Dev 59:417-421.
133. Simoni M, Bakker E, Krausz C (2004) EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. State of the art 2004. Int J Androl 27:240-249.
134. Smith JL, Garry VF, Rademaker AW, Martin RH (2004) Human sperm aneuploidy after exposure to pesticides. Mol Reprod Dev 67:353-359.
135. Soares SR, Templado C, Blanco J, Egozcue J, Vidal F (2001a) Numerical chromosome abnormalities in the spermatozoa of the fathers of children with trisomy 21 of paternal origin: generalised tendency to meiotic non-disjunction. Hum Genet 108:134-139.
136. Soares SR, Templado C, Blanco J, Egozcue J, Vidal F, Egozcue J, Templado C (2001b) Acrocentric chromosome disomy is increased in spermatozoa from fathers of Turner syndrome patients. Hum Genet 108:499-503.
137. Song NH, Wu HF, Zhang W, Zhuo ZM, Qian LX, Hua LX, Guo L, Feng NH (2005) Screening for Y chromosome microdeletions in idiopathic and nonidiopathic infertile men with varicocele and cryptorchidism. Chin Med J 118:1462-1467.
138. Stahl PJ, Schlegel PN (2012) Genetic evaluation of the azoospermic or severely oligozoospermic male. Curr Opin Obstet Gynecol 24:221-228.
139. Sun F, Ko E, Martin RH (2006) Is there a relationship between sperm chromosome abnormalities and sperm morphology? Reprod Biol Endocrinol 4:1.
140. Sun F, Mikhaail-Philips M, Oliver-Bonet M, Ko E, Rademaker A, Turek P, Martin RH (2008) Reduced meiotic recombination on the XY bivalent is correlated with an increased incidence of sex chromosome aneuploidy in men with non-obstructive azoospermia. Mol Hum Reprod 14:399-404.
141. Tempest HG (2011) Meiotic recombination errors, the origin of sperm aneuploidy and clinical recommendations. Syst Biol Reprod Med 57:93-101.
142. Tempest HG, Ko E, Chan P, Robaire B, Rademaker A, Martin RH (2008) Sperm aneuploidy frequencies analysed before and after chemotherapy in testicular cancer and Hodgkinromosome aneuploidy. Hum Reprod 23:251-258.
143. Tempest H, Ko E, Rademaker A, Chan P, Robaire B, Martin RH (2009) Intra-individual and inter-individual variations in sperm aneuploidy frequencies in normal men. Fertil Steril 91:185-192.
144. Templado C, Hoang T, Greene C, Rademaker A, Chernos J, Martin R (2002) Aneuploid spermatozoa in infertile men: teratozoospermia. Mol Reprod Dev 61:200-204.
145. Templado C, Donate A, Giraldo J, Bosch M, Estop A (2011a) Advanced age increases chromosome structural abnormalities in human spermatozoa. Eur J Hum Genet 19:145-151.
146. Templado C, Vidal F, Estop A (2011b) Aneuploidy in human spermatozoa. Cytogenet Genome Res 133:91-99.
147. Templado C, Uroz L, Estop A (2013) New insights on the origin and relevance of aneuploidy in human spermatozoa. Mol Hum Reprod 19:634-643.
148. Thomas C, Cans C, Pelletier R, De Robertis C, Hazzouri M, Sele B, Rousseaux S, Hennebicq S (2004) No long-term increase in sperm aneuploidy rates after anticancer therapy: sperm fluorescence in situ hybridization analysis in 26 patients treated for testicular cancer or lymphoma. Clin Cancer Res 10:6535-6543.
149. Tomascik-Cheeseman LM, Lowe XR, Eskenazi B, Kidd S, Nath J, Moore D 2nd, Wyrobek AJ (2006) A father of four consecutive trisomic pregnancies with elevated frequencies of associated aneuploid sperm. Am J Med Genet A 140A:1840-1845.
150. Turek PJ, Williams RH, Gilbaugh JH 3rd, Lipshultz LI (1995) The reversibility of anabolic steroid-induced azoospermia. J Urol 153:1628-1630.
151. Uroz L, Templado C (2012) Meiotic non-disjunction mechanisms in human fertile males. Hum Reprod 27:1518-1524.
152. Uroz L, Rajmil O, Templado C (2011) Meiotic chromosome abnormalities in fertile men: are they increasing? Fertil Steril 95:141-146.
153. Vialard F, Hammoud I, Molina-Gomes D, Wainer R, Bergere M, Albert M, Bailly M, de Mazancourt P, Selva J (2008) Gamete cytogenetic study in couples with implantation failure: aneuploidy rate is increased in both couple members. J Assist Reprod Genet 25:539-545.
154. Vialard F, Bailly M, Bouazzi H, Albert M, Pont JC, Mendes V, Bergere M, Gomes DM, de Mazancourt P, Selva J (2012) The high frequency of sperm aneuploidy in Klinefelter patients and in nonobstructive azoospermia is due to meiotic errors in euploid spermatocytes. J Androl 33:1352-1359.
155. Vozdova M, Heracek J, Sobotka V, Rubes J (2012a) Testicular sperm aneuploidy in non-obstructive azoospermic patients. Hum Reprod 27:2233-2239.
156. Vozdova M, Kasikova K, Oracova E, Prinosilova P, Rybar R, Horinova V, Gaillyova R, Rubes J (2012b) The effect of the swim-up and hyaluronan-binding methods on the frequency of abnormal spermatozoa detected by FISH and SCSA in carriers of balanced chromosomal translocations. Hum Reprod 27:930-937.
157. World Health Organization (1992) The influence of varicocele on parameters of infertility in a large group of men presenting to infertility clinics. Fertil Steril 57:1289-1293.
158. Xia Y, Bian Q, Xu L, Cheng S, Song L, Liu J, Wu W, Wang S, Wang X (2004) Genotoxic effects on human spermatozoa among pesticide factory workers exposed to fenvalerate. Toxicology 203:49-60.
159. Xia Y, Cheng S, Bian Q, Xu L, Collins MD, Chang HC, Song L, Liu J, Wang S, Wang X (2005) Genotoxic effects on spermatozoa of carbaryl-exposed workers. Toxicol Sci 85:615-623.
160. Xing C, Marchetti F, Li G, Weldon RH, Kurtovich E, Young S, Schmid TE, Zhang L, Rappaport S, Waidyanatha S, Wyrobek AJ, Eskenazi B (2010) Benzene exposure near the U.S. permissible limit is associated with sperm aneuploidy. Environ Health Perspect 118:833-839.
161. Young SS, Eskenazi B, Marchetti FM, Block G, Wyrobek AJ (2008) The association of folate, zinc and antioxidant intake with sperm aneuploidy in healthy non-smoking men. Hum Reprod 23:1014-1022.
162. Young HA, Meeker JD, Martenies SE, Figueroa ZI, Barr DB, Perry MJ (2013) Environmental exposure to pyrethroids and sperm sex chromosome disomy: a cross-sectional study. Environ Health 12:111.
163. Zeyneloglu HB, Baltaci V, Ege S, Haberal A, Batioglu S (2000) Detection of chromosomal abnormalities by fluorescent in-situ hybridization in immotile viable spermatozoa determined by hypo-osmotic sperm swelling test. Hum Reprod 15:853-856.