Increased rate of nondisjunction in sex cells derived from low-quality semen

Human Genetics

Volumn 102, Issue 2, 1998, Pages 129-137

  Finkelstein, Sharona ^a   Mukamel, Eliahu ^a   Yavetz, Haim ^b   Paz, Gedalia ^b   Avivi, Lydia ^a  

^a TEL AVIV UNIVERSITY   (Israel)

^b Serlin Maternity Hospital   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CHROMOSOME 1; CHROMOSOME 15; CHROMOSOME 18; CLINICAL ARTICLE; CONTROLLED STUDY; DISOMY; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; MALE; NONDISJUNCTION; PRIORITY JOURNAL; SPERM; SPERMATOZOON; VARICOCELE; X CHROMOSOME; Y CHROMOSOME;

ADULT; CHROMOSOMES, HUMAN, PAIR 15; CHROMOSOMES, HUMAN, PAIR 18; FERTILIZATION IN VITRO; HUMANS; MALE; MEIOSIS; NONDISJUNCTION, GENETIC; RISK FACTORS; SEMEN; SPERMATOZOA; X CHROMOSOME; Y CHROMOSOME;

EID: 0031922364     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050665     Document Type: Article

References (65)

1. Abruzzo MA, Hassold TJ (1995) Etiology of nondisjunction in humans. Environ Mol Mutagen 25 Suppl 26:38-47
2. Antonarakis SE, Down Syndrome Collaborative Group (1991) Parental origin of the extra chromosome in trisomy 21 as indicated by analysis of DNA polymorphism. N Engl J Med 324:872-876
3. Auger J, Kunstmann JM, Czyglik F, Jouannet P (1995) Decline in semen quality among fertile men in Paris during the past 20 years. N Engl J Med 332:281-285
4. Bar-Am I, Mor O, Yeger H, Shiloh Y, Avivi L (1992) Detection of amplified DNA sequences in human tumor cell lines by fluorescence in situ hybridization. Genes Chromosom Cancer 4:314-320
5. Bischoff FZ, Nguyen DD, Burt KJ, Shaffer LG (1994) Estimates of aneuploidy using multicolor fluorescence in situ hybridization on human sperm. Cytogenet Cell Genet 66:237-243
6. Blanco J, Egozcue J, Vidal F (1996) Incidence of chromosome 21 disomy in human spermatozoa as determined by fluorescent in situ hybridization. Hum Reprod 11:722-726
7. Blanco J, Rubio C, Simon C, Egozcue J, Vidal F (1997) Increased incidence of disomic sperm in a 47,XYY male assessed by fluorescent in situ hybridization (FISH). Hum Genet 99:413-416
8. Botchan A, Hauser R, Gamzu R, Yogev L, Lessing JB, Paz G, Yavetz H, (1997) Sperm quality in Hodgkin's disease versus non-Hodgkin's lymphoma. Hum Reprod 12:73-76
9. Carlsen E, Giwercman A, Keiding N, Skakkebaek NE (1992) Evidence for decreasing quality of semen during past 50 years. BMJ 305:609-613
10. Chandley AC, Maclean N, Edmond P, Fletcher J, Watson GS (1976) Cytogenetics and infertility in man. II Testicular histology and meiosis: results of a five year survey of men attending a subfertility clinic. Ann Hum Genet 40:165-176
11. Chevret E, Rousseaux S, Monteil M, Pelletier R, Sele B (1995) Meiotic segregation of the X and Y chromosomes and chromosome 1 analyzed by three-color FISH in human interphase spermatozoa. Cytogenet Cell Genet 71:126-130
12. Chevret E, Rousseaux S, Monteil M, Usson Y, Cozzi J, Pelletier R, Sele B (1997) Meiotic behaviour of sex chromosomes investigated by three-colour FISH on 35 142 sperm nuclei from two 47,XYY males. Hum Genet 99:407-412
13. Egozcue J, Templado C, Vidal F, Navarro J, Morer-Fargas F, Marina S (1983) Meiotic studies in a series of 1100 infertile and sterile males. Hum Genet 65:185-188
14. Eichenlaub-Ritter U (1994) Mechanisms of nondisjunction in mammalian meiosis. Curr Top Dev Biol 29:281-324
15. Eichenlaub-Ritter U (1996) Parental age-related aneuploidy in human germ cells and offspring: a story of past and present. Environ Mol Mutagen 28:211-236
16. Fisher JM, Harvey JF, Mortion NE, Jacobs PA (1995) Trisomy 18: studies of the parent and cell division of origin and the effect of aberrant recombination on nondisjunction. Am J Hum Genet 56:669-675
17. Goldman AS, Fomina Z, Knights PA, Hill CJ, Walker AP, Hulten MA (1993) Analysis of the primary sex ratio, sex chromosome aneuploidy and diploidy in human sperm using dual-colour fluorescence in situ hybridization. Eur J Hum Genet 1:325-334
18. Gorelick JI, Goldstein M (1993) Loss of fertility in men with varicocele. Fertil Steril 59:613-616
19. Haans LC, Laven JS, Mali WP, te-Velde ER, Wensing CJ (1991) Testis volumes, semen quality, and hormonal patterns in adolescents with and without a varicocele. Fertil Steril 56:731-736
20. Hall JG (1990) Genomic imprinting: review and relevance to human diseases. Am J Hum Genet 46:857-873
21. Han TL, Ford JH, Webb GC, Flaherty SP, Correll A, Matthews CD (1993) Simultaneous detection of X- and Y-bearing human sperm by double fluorescence in situ hybridization. Mol Reprod Dev 34:308-313
22. Hassold T, Chiu D (1985) Maternal age-specific rates of numerical chromosome abnormalities with special reference to trisomy. Hum Genet 70:11-17
23. Hassold TJ, Jacobs PA (1984) Trisomy in man. Annu Rev Genet 18:69-97
24. Hassold T, Jacobs PA, Leppert M, Sheldon M (1987) Cytogenetic and molecular studies of trisomy 13. J Med Genet 24:725-732
25. Hassold TJ, Sherman SL, Pettay D, Page DC, Jacobs PA (1991) XY chromosome nondisjunction in man is associated with diminished recombination in the pseudoautosomal region. Am J Hum Genet 49:253-260
26. Hassold TJ, Pettay D, Robinson A, Uchida I (1992) Molecular studies of parental origin and mosaicism in 45,X conceptuses. Hum Genet 89:647-652
27. Hassold TJ, Hunt PA, Sherman S (1993) Trisomy in humans: incidence, origin and etiology. Curr Opin Genet Dev 3:398-403
28. Hassold T, Merill M, Adkins Y, Freeman S, Sherman S (1995) Recombination and maternal age-dependent nondisjunction: molecular studies of trisomy 16. Am J Hum Genet 57:867-874
29. Hawley RS, Frazier JA, Rasooly R (1994) Separation anxiety: the etiology of nondisjunction in flies and people. Hum Mol Genet 3:1521-1528
30. Hendry WF, Polani PE, Pugh RCB, Sommerville IF, Wallace DM (1975) 200 infertile males: correlation of chromosome, histological, endocrine and clinical studies. Br J Urol 47:899-908
31. Jacobs PA (1990) The role of chromosome abnormalities in reproductive failure. Reprod Nutr Dev Suppl 1:63-74
32. Jacobs PA (1992) The chromosome complement of human gametes. Oxf Rev Reprod Biol 14:47-72
33. Jacobs PA, Hassold TJ (1995) The origin of numerical chromosome abnormalities. Adv Genet 33:101-133
34. Jequier AM, Crich JP (1986) Semen analysis - a practical guide, 1st edn. Blackwell, pp 26-76
35. Kline J, Stein Z (1985) Very early pregnancy. In: Reproductive toxicology, Raven Press, New York, pp 251-265
36. Lamb NE, Freeman SE, Savage-Austin A, Pettay D, Taft L, Hersey J, Gu Y, Shen J, Saker D, May KM, Avramopoulos D, Petersen MB, Hallberg A, Mikkelsen M, Hassold TJ, Sherman SL (1996) Susceptible chiasmata configurations of chromosome 21 predispose to non-disjunction in both maternal meiosis I and meiosis II. Nat Genet 14:400-405
37. Lorda-Sanchez I, Binkert F, Maechler M, Schinzel A (1992) Molecular study of 45,X conceptuses: correlation with clinical findings. Am J Med Genet 42:487-490
38. Luciani JM, Guichaoua MR, Delafantaine D, North MO, Gabriel-Robez O, Rumpler Y (1987) Pachytene analysis in a 17:21 reciprocal translocation carrier: role of the acrocentric chromosomes in male sterility. Hum Genet 77:246-250
39. MacDonald M, Hassold T, Harvey J, Wang LH, Morton NE, Jacobs P (1994) The origin of 47,XXY and 47,XXX aneuploidy: heterogeneous mechanisms and role of aberrant recombination. Hum Mol Genet 3:1365-1371
40. Marmar JL, Corson SL, Batzer FR, Gocial B (1992) Insemination data on men with varicocele. Fertil Steril 57: 1084-1090
41. Martin RH, Ko E, Chan K (1993) Detection of aneuploidy in human interphase spermatozoa by fluorescence in situ hybridization (FISH). Cytogenet Cell Genet 64:23-26
42. Martin RH, Spriggs E, Rademaker AW (1996) Multicolor fluorescence in situ hybridization analysis of aneuploidy and diploidy frequencies in 225,846 sperm from 10 normal men. Biol Reprod 54:394-398
43. Mascari MJ, Ladda RL, Woodage T, Trent RJ, Lai LW, Erikson RP, Cassidy SB, Petersen MB, Mikkelsen M, Driscoll DJ, Nicholls RD, Rogan PK (1993) Perturbed recombination of chromosome 15 in Prader-Willi patients with maternal disomy. Am J Hum Genet 53 :A260
44. May KM, Jacobs PA, Lee M, Ratcliffe S, Robinson A, Nielsen J, Hassold TJ (1990) The parental origin of the extra chromosome in 47,XXX females. Am J Hum Genet 46:754-761
45. Meschede D, Nieschlag E, Horst J (1995) The importance of clinical documentation in genetic studies of male infertility. Hum Genet 96:500-501
46. Miharu N, Best RG, Young SR (1994) Numerical chromosome abnormalities in spermatozoa of fertile and infertile men detected by fluorescence in situ hybridization. Hum Genet 93:502-506
47. Moosani N, Pattinson HA, Carter MD, Cox DM, Rademaker AW, Martin RH (1995) Chromosomal analysis of sperm from men with idiopathic infertility using sperm karyotyping and fluorescence in situ hybridization. Fertil Steril 64:811-817
48. Nothen MM, Eggermann T, Erdmann J, Eiben B, Hofmann D, Propping P, Schwanitz G (1993) Retrospective study of the parental origin of the extra chromosome in trisomy 18 (Edward syndrome). Hum Genet 92:347-349
49. Olsen GW, Bodner KM, Ramlow JM, Ross CE, Lipshultz LI (1995) Have sperm counts been reduced 50 percent in 50 years? A statistical model revisited. Fertil Steril 63:887-893
50. Palermo GD, Cohen J, Rosenwaks Z (1996) Intracytoplasmic sperm injection: a powerful tool to overcome fertilization failure. Fertil Steril 65:899-908
51. Pellestor F (1991) Differential distribution of aneuploidy in human gametes according to their sex. Hum Reprod 6:1252-1258
52. Robbins WA, Segraves R, Pinkel D, Wyrobek AJ (1993) Detection of aneuploid human sperm by fluorescence in situ hybridization; evidence for a donor difference in frequency of sperm disomic for chromosome 1 and Y. Am J Hum Genet 52:799-807
53. Robbins WA, Meistrich ML, Moore D, Hagemeister FB, Weier HU, Cassel MJ, Wilson G, Eskenazi B, Wyrobek AJ (1997) Chemotherapy induces transient sex chromosomal and autosomal aneuploidy in human sperm. Nat Genet 76:74-78
54. Robinson WP, Bernasconi F, Mutirangura A, Ledbetter DH, Langlois S, Malcolm S, Morris MA, Schinzel AA (1993) Nondisjunction of chromosome 15: origin and recombination. Am J Hum Genet 53:740-751
55. Rosenmann A, Wahrman J, Richler C, Voss R, Persitz A, Goldman B (1985) Meiotic association between the XY chromosomes and unpaired autosomal elements as a cause of human male sterility, Cytogenet Cell Genet 39: 19-29
56. Schattman GL, Munne S, Grifo JG, Carton L, Cohen J (1993) Aneuploidy in spermatozoa using fluorescence in situ hybridization. J Assist Reprod Genet 10:360-365
57. Sherins RJ (1995) Are semen quality and male fertility changing? N Engl J Med 332:327-328
58. Sherman SL, Petersen MB, Freeman SL, Hersey J, Pettay D, Taft L, Frantzen M, Mikkelsen M, Hassold TJ (1994) Non-disjunction of chromosome 21 in maternal meiosis I: evidence for a maternal age-dependent mechanism involving reduced recombination. Hum Mol Genet 3:1529-1535
59. Spriggs EL, Rademaker AW, Martin RH (1996) Aneuploidy in human sperm: the use of multicolor FISH to test various theories of nondisjunction. Am J Hum Genet 58:356-362
60. Templado C, Marquez C, Munne S, Colls P, Martorell MR, Cieply K, Benet J, Kirk V Van, Navarro J, Estop AM (1996) An analysis of human sperm chromosome aneuploidy. Cytogenet Cell Genet 74:194-200
61. Warburton D, Kline J, Stein Z, Strobino B (1986) Cytogenetic abnormalities in spontaneous abortions of recognized conceptions. In: Porter IH, Willey A (eds) Perinatal genetics: diagnosis and treatment. Academic Press, New York, pp 133-148
62. Watt JL, Templeton A, Messinis I, Bell L, Cunningham P, Duncan RO (1987) Trisomy 1 in an eight cell human pre-embryo. J Med Genet 24:60-64
63. Williams BJ, Ballenger CA, Malter HE, Bishop F, Tucker M, Zwingman TA, Hassold TJ (1993) Non-disjunction in human sperm: results of fluorescence in situ hybridization studies using two and three probes. Hum Mol Genet 11:1929-1936
64. World Health Organization (1992) WHO laboratory manual for the examination of human semen and sperm-cervical mucus interaction, 3rd edn. Cambridge University Press, Cambridge, pp 40-45
65. Wyrobek AJ, Robbins WA, Mehraein Y, Pinkel D, Weier HU (1994) Detection of sex chromosomal aneuploidies X-X, Y-Y and X-Y in human sperm using two-chromosome fluorescence in situ hybridization. Am J Med Genet 53:1-7