Sperm and embryo analysis in a carrier of supernumerary inv dup(15) marker chromosome

Journal of Andrology

Volumn 30, Issue 3, 2009, Pages 233-239

  Oracova, Eva ^a,b   Musilova, Petra ^a,b   Kopecna, Olga ^a   Rybar, Roman ^a,b   Vozdova, Miluse ^a   Vesela, Katerina ^b   Rubes, Jiri ^a,b  

^a VETERINARY RESEARCH INSTITUTE   (Czech Republic)

^b Sanatorium Repromeda   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; BLASTOMERE; CASE REPORT; CHROMATIN CONDENSATION; CHROMATIN STRUCTURE; CHROMOSOME SEGREGATION; CYTOGENETICS; DISOMY; DNA STRAND BREAKAGE; FERTILIZATION IN VITRO; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; KARYOTYPE; LYMPHOCYTE; MALE; MALE STERILITY; MARKER CHROMOSOME; METAPHASE; PRIORITY JOURNAL; SEMEN ANALYSIS;

ADULT; CHROMOSOMES, HUMAN, PAIR 15; EMBRYO, MAMMALIAN; FEMALE; HETEROZYGOTE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFERTILITY, MALE; MALE; PEDIGREE; PREGNANCY; SPERMATOZOA; UNIPARENTAL DISOMY;

EID: 65549137061     PISSN: 01963635     EISSN: None     Source Type: Journal    
DOI: 10.2164/jandrol.108.006783     Document Type: Article

References (51)

1. Anneren G, Wahlström J, Tommerup N. Marker chromosomes in parents to children with Down's syndrome. Clin Genet. 1984;25(2): 140-147.
2. Baart EB, Martini E, van den Berg I, Macklon NS, Galjaard RJ, Fauser BC, Van Opstal D. Preimplantation genetic screening reveals a high incidence of aneuploidy and mosaicism in embryos from young women undergoing IVF. Hum Reprod. 2006;21(1): 223-233.
3. Bahçe M, Escudero T, Sandalinas M, Morrison L, Legator M, Munne S. Improvements of preimplantation diagnosis of aneuploidy by using microwave hybridization, cell recycling and monocolour labelling of probes. Mol Hum Reprod. 2000;6(9):849-854.
4. Bartsch HD, de Azevedo Moreira LM, Röhrborn G, Claussen U, Gebauer HJ. Possible origin of a small bisatellited additional chromosome. Hum Genet. 1980;54(3):319-322.
5. Blennow E, Bui TH, Kristoffersson U, Vujic M, Anneren G, Holmberg E, Nordenskjöld M. Swedish survey on extra structurally abnormal chromosomes in 39 105 consecutive prenatal diagnoses: prevalence and characterization by fluorescence in situ hybridization. Prenat Diagn. 1994;14:1019-1028.
6. Blennow E, Nielsen KB, Telenius H, Carter NP, Kristoffersson U, Holmberg E, Gillberg C, Nordenskjöld M. Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization. Am J Med Genet. 1995;55:85-94.
7. Buckton KE, Spowart G, Newton MS, Evans H. Forty four probands with an additional "marker" chromosome. Hum Genet. 1985;69: 353-370.
8. Chandley AC. Chromosome studies on testicular cells of subfertile men. Adv Exp Med Bio. 1970;10:151-167.
9. Coonen E, Dumoulin JC, Ramaekers FC, Hopman AHN. Optimal preparation of preimplantation embryo interphase nuclei for analysis by fluorescence in-situ hybridization. Hum Reprod. 1994;9: 533-537.
10. Cotter PD, Ko E, Larabell SK, Rademaker AW, Martin RH. Segregation of a supernumerary del(15) marker chromosome in sperm. Clin Genet. 2000;58:488-492.
11. Crolla JA, Youings SA, Ennis S, Jacobs PA. Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited. Eur J Hum Genet. 2005;13:154-160.
12. Douet-Guilbert N, Marical H, Pinson L, Herry A, Le Bris MJ, Morel F, De Braekeleer M. Characterisation of supernumerary chromosomal markers: a study of 13 cases. Cytogenet Genome Res. 2007; 116(1-2):18-23.
13. Eggermann K, Mau UA, Bujdoso G, Koltai E, Engels H, Schubert R, Eggermann T, Raff R, Schwanitz G. Supernumerary marker chromosomes derived from chromosome 15: analysis of 32 new cases. Clin Genet. 2002;62:89-93.
14. Evenson DP, Larson KL, Jost LK. Sperm chromatin structure assay: its clinical use for detecting sperm DNA fragmentation in male infertility and comparisons with other techniques. J Androl. 2002; 23:25-43.
15. Faed M, Robertson J, MacIntosh WG, Grieve J. Spermatogenesis in an infertile XYY man. Hum Genet. 1976;33(3):341-347.
16. Gabriel-Robez O, Delobel B, Croquette MF, Rigot JM, Djlelati R, Rumpler Y. Synaptic behaviour of sex chromosome in two XYY men. Ann Genet. 1996;39(3):129-132.
17. Gentile M, Susca F, Resta N, Stella A, Cascone A, Guanti G. Infertility in carriers of two bisatellited marker chromosomes. Clin Genet. 1993;44(2):71-75.
18. Gianaroli L, Magli MC, Ferraretti AP. The in vivo and in vitro efficiency and efficacy of PGD for aneuploidy. Mol Cell Endocrinol . 2001;183:S13-S18.
19. Jaafar H, Gabriel-Robez O, Vignon F, Flori E, Rumpler Y. Supernumerary chromosomes and spermatogenesis in a human male carrier. Hum Genet. 1994;94(1):74-76.
20. Kubickova S, Cernohorska H, Musilova P, Rubes J. The use of laser microdissection for the preparation of chromosome-specific painting probes in farm animals. Chromosome Res. 2002;10(7): 571-577.
21. Leana-Cox J, Jenkins L, Palmer CG, Plattner R, Sheppard L, Flejter WL, Zackowski J, Tsien F, Schwartz S. Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications. Am J Hum Genet. 1994;54(5):748-756.
22. Liehr T, Claussen U, Starke H. Small supernumerary marker chromosomes (sSMC) in humans. Cytogenet Genome Res. 2004;107:55-67.
23. Liehr T, Weise A. Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics. Int J Mol Med. 2007;19(5):719-731.
24. Manenti E. Two extra inv dup(15) chromosomes and male infertility: second case. Am J Med Genet. 1992;42(3):402-403.
25. Martin RH, Hildebrand KA, Yamamoto J, Peterson D, Rademaker AW, Taylor P, Lin CC. The meiotic segregation of human sperm chromosomes in two men with accessory marker chromosomes. Am J Med Genet. 1986;25(2):381-388.
26. Martin RH, Rademaker AW. Nondisjunction in human sperm: comparison of frequencies in acrocentric chromosomes. Cytogenet Cell Genet. 1999;86:43-45.
27. Martin-Lucas MA, Perez-Castillo A, Abrisqueta JA. Infertility associated with two accessory bisatellited chromosomes. Hum Genet. 1986;73(2):133-136.
28. Mennicke K, Diercks P, Schlieker H, Bals-Pratsch M, al Hasani S, Diedrich K, Schwinger E. Molecular cytogenetic diagnostics in sperm. Int J Androl. 1997;20(suppl 3):11-19.
29. Mercier S, Morel F, Fellman F, Roux C, Bresson JL. Molecular analysis of the chromosomal equipment in spermatozoa of a 46, XY, t(7;8) (q11.21;cen) carrier by using fluorescence in situ hybridization. Hum Genet. 1998;102(4):446-451.
30. Morel F, Douet-Guilbert N, Le Bris MJ, Amice V, Le Martelot MT, Roche S, Valeri A, Derrien V, Amice J, De Braekeleer M. Chromosomal abnormalities in couples undergoing intracytoplasmic sperm injection. A study of 370 couples and review of the literature. Int J Androl. 2004;27(3):178-182.
31. Munne S. Preimplantation genetic diagnosis of numerical and structural chromosome abnormalities. Reprod Biomed Online. 2002;4:183-196.
32. Munne S. Analysis of chromosome segregation during preimplantation genetic diagnosis in both male and female translocation heterozygotes. Cytogenet Genome Res. 2005;111(3-4):305-309.
33. Munne S, Lee A, Rosenwaks Z, Grifo J, Cohen J. Diagnosis of major chromosome aneuploidies in human preimplantation embryos. Hum Reprod. 1993;8:2185-2191.
34. Munne S, Marquez C, Magli C, Morton P, Morrison L. Scoring criteria for preimplantation genetic diagnosis of numerical abnormalities for chromosomes X, Y, 13, 16, 18 and 21. Mol Hum Reprod. 1998;4(9):863-870.
35. Munne S, Sandalinas M, Escudero T, Velilla E, Walmsley R, Sadowy S, Cohen J, Sable D. Improved implantation after preimplantation genetic diagnosis of aneuploidy. Reprod Biomed Online. 2003;7(1): 91-97.
36. Otani T, Roche M, Mizuike M, Colls P, Escudero T, Munne S. Preimplantation genetic diagnosis significantly improves the pregnancy outcome of translocation carriers with a history of recurrent miscarriage and unsuccessful pregnancies. Reprod Biomed Online. 2006;13(6):869-874.
37. Paetzold U, Schwanitz G, Schubert R, van der Ven K, Montag M. Sperm analyses, genetic counselling and therapy in an infertile carrier of a supernumerary marker chromosome 15. Adv Med Sci. 2006;51:31-35.
38. Palermo G, Joris H, Devroey P, Van Steirteghem AC. Pregnancies after intracytoplasmic injection of single spermatozoon into an oocyte. Lancet. 1992;340:17-18.
39. Ramos C, Rivera L, Benitez J, Tejedor E, Sanchez-Cascos A. Recurrence of Down's syndrome associated with microchromosome. Hum Genet. 1979;49(1):7-10.
40. Robbins WA, Segraves R, Pinkel D, Wyrobek AJ. Detection of aneuploid human sperm by fluorescence in situ hybridization - evidence for a donor difference in frequency of sperm disomic for chromosomes-I and chromosomes-Y. Am J Hum Genet. 1993;52: 799-807.
41. Rubes J, Vozdova M, Oracova E, Perreault SD. Individual variation in the frequency of sperm aneuploidy in humans. Cytogenet Genome Res. 2005;111(3-4):229-236.
42. Simopoulou M, Harper JC, Fragouli E, Mantzouratou A, Speyer BE, Serhal P, Ranieri DM, Doshi A, Henderson J, Rodeck CH, Delhanty JD. Preimplantation genetic diagnosis of chromosome abnormalities: implications from the outcome for couples with chromosomal rearrangements. Prenat Diagn. 2003;23(8):652-662.
43. Solari AJ. Synaptonemal complex analysis in human male infertility. Eur J Histochem. 1999;43(4):265-276.
44. Spriggs EL, Rademaker AW, Martin RH. Aneuploidy in human sperm: results of two-and three-color fluorescence in situ hybridization using centromeric probes for chromosomes 1, 12, 15, 18, X, and Y. Cytogenet Cell Genet. 1995;71(1):47-53.
45. Steinbach P, Djalali M. Ineffectivity of accessory bisatellited marker chromosomes in inducing meiotic nondisjunction. Hum Genet. 1983;64(4):402-403.
46. Steinbach P, Djalali M, Hansmann I, Kattner E, Meisel-Stosiek M, Probeck HD, Schmidt A, Wolf M. The genetic significance of accessory bisatellited marker chromosomes. Hum Genet. 1983; 65(2):155-164.
47. Templado C, Bosch M, Benet J. Frequency and distribution of chromosome abnormalities in human spermatozoa. Cytogenet Genome Res. 2005;111(3-4):199-205.
48. Thornhill AR, deDie-Smulders CE, Geraedts JP, Harper JC, Harton GL, Lavery SA, Moutou C, Robinson MD, Schmutzler AG, Scriven PN, Sermon KD, Wilton L, ESHRE PGD Consortium. ESHRE PGD Consortium 'Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)'. Hum Reprod. 2005;20(1):35-48.
49. Webb T. Inv dup(15) supernumerary marker chromosomes. J Med Genet. 1994;31(8):585-594.
50. Wiland E, Jarmumz M, Kurpisz M. Segregation of the marker chromosome der(20) in the sperm of a male with karyotype 46,XY[961/47,XY+mar[4]. Med Sci Monit. 2005;11(3):CS9-C15.
51. World Health Organization, WHO Laboratory Manual for the Examination of Human Semen and Semen-Cervical Mucus Interactions. New York, NY: Cambridge University Press; 1999