The incidence, origin, and etiology of aneuploidy

International Review of Cytology

Volumn 167, Issue , 1996, Pages 263-296

  Griffin, Darren K ^a,b  

^a CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

Age effect; Aneuploidy; Chromosome; FISH; Monosomy; Mosaicism; Nondisjunction; Trisomy

Indexed keywords

ADULT; ANEUPLOIDY; CELL DIVISION; CENTROMERE; CHROMOSOME 16; CHROMOSOME 21; CHROMOSOME ABERRATION; CHROMOSOME MAP; DOWN SYNDROME; ENVIRONMENTAL FACTOR; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC RECOMBINATION; HEREDITY; HUMAN; HUMAN CELL; MALE; MATERNAL AGE; MEIOSIS; MENTAL DEFICIENCY; METAPHASE CHROMOSOME; MONOSOMY X; NONDISJUNCTION; OOCYTE; PATERNAL AGE; PREIMPLANTATION EMBRYO; PRIORITY JOURNAL; REVIEW; SEX CHROMOSOME; SPONTANEOUS ABORTION; TRISOMY; TRISOMY 16; TRISOMY 21;

EID: 0029816617     PISSN: 00747696     EISSN: None     Source Type: Book Series    
DOI: 10.1016/s0074-7696(08)61349-2     Document Type: Review

References (89)

1. Abruzzo, M. A., Griffin, D. K., Millie, E. A., Sheean, L. A., and Hassold, T. J. (1996). The effect of alpha-satellite array length on the rate of sex chromosome disomy in human sperm. Hum. Genet, (in press).
2. Angell, R. R. (1991). Predivision in human oocytes at meiosis I: A mechanism for trisomy formation in man. Hum. Genet. 86, 383-387.
3. Angell, R. R., Templeton, A. A., and Aitken, R. J. (1986). Chromosome studies in human in-vitro fertilization. Hum. Genet. 72, 333-339.
4. Angell, R. R., Xian, J., Keith, J., Ledger, W., and Baird, D. T. (1994). First meiotic division abnormalities in human oocytes: Mechanism of trisomy formation. Cytogenet. Cell Genet. 65. 194-202.
5. Ayme, S., and Lippman-Hand, A. (1982). Maternal-age effect in aneuploidy: Does altered embryonic selection play a role? Am. J. Hum. Genet. 34, 558-565.
6. Baty, B. J., Blackburn, B. L., and Carey, J. C. (1994). Natural history of trisomy 18 and trisomy 13: I. growth, physical assessment, medical histories, survival and recurrence risk. Am. J. Med. Genet. 49, 175-188.
7. Bischoff, F. Z., Nguyen, D. D., Burt, K. J., and Shaffer, L. G. (1994). Estimates of aneuploidy using multicolor fluorescence in situ hybridization on human sperm. Cytogenet. Cell Genet. 66. 237-243.
8. Brook, J. D., Gosden, R. G., and Chandley, A. C. (1984). Maternal ageing and aneuploid embryos-evidence from the mouse that biological and not chronological age is the important influence. Hum. Genet. 66, 41-45.
9. Carothers, A. D. (1988). Controversy concerning paternal age effect in 47, +21 Down's syndrome. Hum. Genet. 78, 384-385.
10. Carothers, A. D., Collyer, S., DeMey, R., and Frackiewicz, A. (1978). Parental age and birth order in the aetiology of some sex chromosome aneuploidies./ln/i. Hum. Genet. 41, 277-287.
11. Cassidy, S. B., Lai, L.-W., Erickson, R. P., Magnuson, L., Thomas, E., Gendron, R., and Hermann, J. (1992). Trisomy 15 with loss of the Paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy. Am. J. Hum. Genet. 51, 701-708.
12. Cross, P. K., and Hook, E. B. (1987). An analysis of paternal age and 47, +21 in 35000 new prenatal cytogenetic diagnosis data from the New York State Chromosome Registry: No significant effect. Hum. Genet. 77, 307-313.
13. Crowley, P. H., Gulati, D. K., Hayden, T. L., Lopez, P., and Dyer, R. (1979). A chiasmahormonal hypothesis relating Down's syndrome and maternal age. Nature (London) 280, 417-418.
14. Edwards, J. H., Harnden, D. G., Cameron, A. H., Crosse, V. M., and Wolf, O. H. (1960). A new trisomie syndrome. Lancet 9, 787-789.
15. Eiben, B., Bartels, I., Bahr-Porch, S., Borgman, S., Gatz, G., Geliert, G., Goebel, R., Hammans, W., Hentemann, M., Osmers, R., Rauskolb, R. and Hansmann, I. (1990). Cytigenetic analysis of 750 spontaneous abortions with the direct-preparation method of chorionic villi and its implications for studying genetic causes of pregnancy wastage. Am. J. Hum. Genet. 47, 565-663.
16. Eichenlaub-Ritter, U., Chandley, A. C, and Gosden, R. G. (1988). The CBA mouse as a model for age-related aneuploidy in man: Studies of oocyte maturation spindle formation, and chromosome alignment during meiosis. Chrotnosoma 96, 220-226.
17. Erickson, J. D. (1978). Down syndrome, paternal age, maternal age and birth order. Ann. Hum. Genet. 41, 289-298.
18. Fisher, J. M., Harvey, J. F., Morton, N. E., and Jacobs, P. A. (1995). Trisomy 18: Studies of the parent and cell division of origin and the effect of aberrant recombination on nondisjuction. Am. J. Hum. Genet. 56, 669-675.
19. Ford, C. E., and Hammerton, J. L. (1956). The chromosomes in man. Nature (London) 178, 1020-1023.
20. Ford, C. E., Jones, K. W., Polani, P. E., de Almeida, J. C, and Briggs, J. H. (1959). A sex chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome). Lancet 1, 711-713.
21. Gaulden, M. E. (1992). Maternal age effect: The enigma of Down syndrome and other trisomie conditions. Mutat. Res. 296, 69-88.
22. Griffin, D. K., Handyside, A. H., Penketh, R. J. A., Winston, R. M. L., and Delhanty, J. D. A. (1991). Fluorescent in-situ hybridization to interphase nuclei of human primplantation embryos with X and Y chromosome specific probes. Hum. Reprod. 6, 101-105.
23. Griffin, D. K., Wilton, L. J., Handyside, A. H., Winston, R. M. L., and Delhanty, J. D. A. (1992). Dual Fluorescent in-situ hybridization for the simultaneous detection of X and Y chromosome specific probes for the sexing of human preimplantation embryonic nuclei. Hum. Genet. 89, 18-82.
24. Griffin, D. K., Abruzzo, M. A., Millie, E. A., Sheean, L. A., Feingold, E., Sherman, S. L., and Hassold, T. J. (1995). Non-disjunction in human sperm: Evidence for an effect of increasing age. Hum. Mol. Genet. 4, 2227-2232.
25. Griffin, D. K., Abruzzo, M. A., Millie, E. A., and Hassold, T. J. (1996a). Sex ratio in normal and disomic sperm: Evidence that the extra chromosome 21 preferentially segregates with the Y chromosome. Am. J. Hum. Genet, (in press).
26. Griffin, D. K., Zaragoza, M. V., Millie, E. A., Redline, R. W., and Hassold, T. J. (1996b). Cytogenetic studies of 500 spontaneous abortions: A comparison of techniques and assesement of the role of confined placental mosaicism. In preparation.
27. Han, T. L., Ford, J. H., Webb, J. C, Flaherty, S. P., Correl, A., and Matthews, C. D. (1993). Simultaneous detection of X-bearing and Y-bearing human sperm by double fluorescent in-situ hybridization. Mol. Reprod. Dev. 34, 308-313.
28. Hassold, T., and Chiu, D. (1985). Maternal age specific rates of numerical chromosome abnormalities with special reference to trisomy. Hum. Genet 70, 11-17.
29. Hassold, T., and Schwartz, S. (1994). Human chromosomes abnormalities: What molecular biology has taught us. In "Human Genetics 1994: A Revolution in Full Swing" (E. Hackel and P. Tippett, eds.) American Association of Blood Banks, Bethesda, MD.
30. Hassold, T., and Sherman, S. (1993). The origin of non-disjunction in humans. Chromosomes Today 11, 313-322.
31. Hassold, T., Chen, N., Funkhouser, J., Jooss, T., Manuel, B., Matsuura, J., Matsuyama, A. W. C, Yamane, J., and Jacobs, P. A. (1980). A cytogenetic study of 1, 000 spontaneous abortions. Ann. Hum Genet. 44, 151-178.
32. Hassold, T., Sherman, S. L., Pettay, D., Page, D. C., and Jacobs, P. A. (1991). X-Y chromosome nondisjunction in man is associated with diminished recombination in the pseudoautosomal region. Am. J. Hum. Genet. 49, 253-260.
33. Hassold, T., Sherman, S., and Hunt, P. A. (1994). Non-disjunction in humans: Incidence, origin and etiology. Pro. Int. Res. Conf. Down Syndrome, 1994.
34. Hassold, T., Abruzzo, M., Adkins, K., Griffin, D., Merrill, M., Millie, E., Saker, D., Shen, J., and Zaragoza, M. (1995). Human aneuploidy: Incidence origin and etiology. Environ. Mol. Mittagen, (in press).
35. Hawley, R. S., Frazier, J. A., and Rasooly, R. (1994). Separation anxiety: The etiology of nondisjunction in flies and people. Hum. Mol. Genet. 3, 1521-1528.
36. Hawley, R. S., and Theurkauf, W. E. (1993). Requiem for distributive segregation: Achiasmate segregation in Drosophila females. Trends Genet. 9, 310-317.
37. Henderson, S. A., and Edwards, R. G. (1968). Chiasma frequency and maternal age in mammals. Nature (London) 218, 22-28.
38. Holmes, J. M., and Martin, R. H. (1993). Aneuploidy detection in human sperm nuclei using fluorescence in situ hybridization. Hum. Genet. 91, 20-24.
39. Hook, E. B., (1987a). Issues in analysis of data on paternal age and 47, +21: Implications for genetic counselling for Down sydrome. Hum. Genet. 77, 303-306.
40. Hook, E. B., (1987b). A general regression model for analysis of independent maternal and paternal age effects for 47, +21 and other disorders that may arise from mutant gametes from either parent. Hum. Genet. 77, 314-316.
41. Hook, E. B., and Cross, P. K. (1982). Paternal age and Down's syndrome genotypes diagnosed prenatally: No association in New York State data. Hum. Genet. 62, 167-174.
42. Hook, E. B., Cross, P. K., and Regal, R. R. (1990). Factual, statistical and logical issues in the search for a paternal age effect for Down syndrome. Hum. Genet. 85, 387-388.
43. Huether, C. A. (1990). Epidemiologie aspects of Down Syndrome: Sex ratio, incidence, and recent impact of prenatal diagnosis. Issues Rev. in Teratol. 5, 283-316.
44. Jacobs, P. A. (1992). The chromosome complement of human gametes. Oxford Rev. Reprod. biol. 14, 48-72.
45. Jacobs, P. A., and Strong, J. A. (1959). A case of human intersexuality having a possible XXY sex-determining mechanism. Nature (London) 183, 302-303.
46. Jamieson, M. E., Coutts, J. R. T., and Connor, J. M. (1994). The chromosome constitution of human preimplantation embryos fertilized in-vitro. Hum. Reprod. 9, 709-715.
47. Kalousek, D. K., Barrett, I. J., and Gärtner, A. B. (1992). Spontaneous abortion and confined placental mosaicism. Hum. Genet. 88, 642-646.
48. King, C. R., Magenis, E., and Bennet (1978). Pregnancy and the Turner syndrome. Obstet. Gynecol. 52, 617-624.
49. Lejeune, J., Gautier, M., and Turpin, R. (1959). Etude des chromosomes somatiques de neuf enfants mongoliens. C. R. Hebd. Acad. Sci. Seances 248, 1721-1722.
50. Lombard!, S. J., and Dev, V. G. (1994). Cytogenetic discrepancies in spontaneous abortions with direct and culture analysis of chorionic villi. Am. J. Obstet. Gynecol. 170, 264.
51. Lorda-Sanchez, I., Binkert, F., Maechler, M., Robinson, W. P., and Schinzel, A. A. (1992). Reduced recombination and paternal age effect in Klinefelter syndrome. Hum. Genet. 89, 524-530.
52. Luthardt, F. W. (1977). Cytogenetic analysis of human aneuploidy. Am. J. Hum. Genet. 29, 71
53. A. MacDonald, M., Hassold, T., Harvey, J., Wang, L. H., Morion, N. E., and Jacobs, P. A. (1994). The origin of 47.XXY and 47, XXX aneuploidy: Heterogeneous mechanisms and role of aberrant recombination. Hum. Mol. Genet. 3, 1365-1371.
54. Martin, R. H., and Rademaker, A. W. (1987). The effect of age on the frequency of sperm chromosomal abnormalities in normal men. Am. J. Hum. Genet 41, 484-492.
55. Miller, O. J. (1974). Cytogenetics: New techniques of human chromosome identification. In "Human Genetics-1974" E. Hackel, ed., pp. 13-24. American Association of Blood Banks, Washington, DC.
56. Munne, S., Grifo, J., Cohen, J., and Weier, H.-U. G. (1994). Chromosome abnormalities in human arrested preimplantation embryos: A multiple-probe FISH study. Am. J. Hum. Genet. 55, 150-159.
57. Munne, S., Alikani, M., Tomkin, G., Grifo, J., and Cohen, J. (1995). Embryo morphology, developmental rates and maternal age are correlated with chromosome abnormalities. Fertil. Steril. 64, 382-391.
58. Pang, M. G., Zackowski, J. L., Hoegerman, S. F., Friedman, E., Moon, S. Y., Cutticia, A. J., Acosta, A. A. and Kearns, W. G. (1995). Detection by fluorescence in situ hybridisation of chromosome 4, 6, 7, 8, 9, 10 11, 12, 13, 17, 18, 21, X and Y aneuploidy in sperm from oligo-astheno-terato-zoospermic patients of an in-vitro fertlisation program. Am. J. Hum. Genet. 57, A121.
59. Patau, K. A., Smith, D. W., Therman, E. M., Inhorn, S. L., and Wagner, H. P. (1960). Multiple congenital anomaly caused by an extra autosome. Lancet 1, 790-793.
60. Penrose, L. S. (1933). The relative effects of paternal and maternal age in mongolism. J. Genet. 27, 219-224.
61. Peters, H., and McNatty, K. P. (1980). "The Ovary", p. 123. Univ. of California Press, Berkeley.
62. Petersen, M. B., Antonarakis, S. E., Hassold, T. J., Freeman, S. B., Sherman, S. L., Avramopoulos, D., and Mikkelsen, M. (1993). Paternal nondisjunction in trisomy 21: Excess of male patients. Hum. Mol. Genet. 10, 1691-1695.
63. Polani, P. E., and Crolla, J. A. (1991). A test of the production line hypothesis of mammalian oogenesis. Hum. Genet. 88, 64-70.
64. Polani, P. E., and Jagiello, G. M. (1976). Chiasmata, meiotic univalents, and age in relation to aneuploid imbalance in mice. Cytogenet. Cell Genet. 16, 505-529.
65. Robinson, W. P., Lorda-Sanchez, I., Malcolm, S., Langlois, S., Schuffenhauer, S., Knoblauch, H., Horsthemke, B., and Schinzel, A. A. (1993b). Increased parental ages and uniparental disomy 15: A paternal age effect? Eur. J. Hum. Genet. 1, 280-286.
66. Rockmill, B., and Roeder, G. S. (1994). The yeast med 1 mutant undergoes both meiotic homolog nondisjunction and precocious separation of sister chromatids. Genetics 136, 65-74.
67. Rudak, E., Jacobs, P. A., and Yanagimachi, R. (1978). The chromosome constitution of human spermatozoa: a method of direct chromosome analysis. Nature (London) 274, 911-913.
68. Sandler, L. (1981). The meiotic nondisjunction of homologous chromosomes perspectives. In F. de la Cruz and P. Gerald, (eds.), pp. 181-197. Academic Press, New York.
69. Sherman, S. L., Takaesu, N., Freemen, S. B., Grantham, M., Phillips, C, Blackston, R. D., Jacobs, P. A., Cockwell, A. E., Freeman, V., Uchida, I., Mikkelsen, M., Kurnit, D. M., Buraczynska, M., Keats, B. J. B., and Hassold, T. J. (1991). Trisomy 21: Association between reduced recombination and non-disjunction. Am. J. Hum. Genet. 49, 608-620.
70. Sherman, S. L., Petersen, M. B., Freemen, S. B., Hersey, J., Pettay, D., Taft, L., Frantzen, M., Mikkelsen, M., and Hassold, T. J. (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.
71. Speed, P. E., and Chandley, A. C. (1983). Meiosis in the foetal mouse ovary. II. Oocyte development and age-related aneuploidy. Does a production line exist? Chromosoma 88, 184-189.
72. Spriggs, E. L., Rademaker, A. W., and Martin, R. H. (1996). Aneuploidy in human sperm-The use of multicolor FISH test various theories of nondisjunction. Am. J. Hum. Genet. 58, 356-362.
73. Stene, E., and Stene, J. (1987a). A analysis of the New York State prenatal diagnosis data on Down's syndrome and paternal age effects. Hum. Genet. 77, 299-302.
74. Stene, E., and Stene, J. (1987b). On methodological issues regarding 47, +21 paternal age data. Hum. Genet. 77, 317.
75. Stene, E., and Stene, J. (1989). Controversy concerning paternal age effect in 47.+21 Down's syndrome. Hum. Genet. 81, 300-301.
76. Stene, J., and Stene, E. (1977). Statistical methods for detecting a moderate paternal age effect on incidence of disorder when a maternal one is present. Ann. Hum. Genet. 40, 343-353.
77. Stene, J., and Stene, E. (1978). On data and methods in investigations on parental age effects. Ann. Hum. Genet. 41, 465-468.
78. Stene, J., and Stene, E. (1981). Paternal age and Down's syndrome. Hum. Genet. 59, 119-124.
79. Stene, J., Fischer, G., Stene, E., Mikkelsen, M., and Petersen, E. (1977). Paternal age effect in Down's syndrome. Am. J. Hum. Genet. 40, 299-306.
80. Sugarawa, S., and Mikamo, K. (1983). Absence of correlation between univakent formation and meiotic nondisjunction in the aged femal Chinese hamster. Cytogenet. Cell Genet. 35, 34-40.
81. Tjio, J. H., and Levan, A. (1956). The chromosome number of Man. Hereditas 42, 1-6.
82. Van Blerkom, J. (1996). The influence of intrinsic and extrinsic factors on the developmental potential and chromosome normality of the human oocyte. Submitted for publication.
83. Warburton, D. (1989). The effect of maternal age on the frequency of trisomy: Change in meiosis or in utero selection? In "Molecular and Cytogenetic Studies of Non-disjunction" (T. J. Hassold and C. J. Epstein, eds.), pp. 165-181. Alan R. Liss, New York.
84. Warren, A. C., Chakravarti, A., Wong, C, Slaugenhaupt, S. A., Halloran, S. L., Watkins, P. C., and Metaxotou, C. (1987). Evidence for reduced recombination on the nondisjoined chromosomes 21 in Down syndrome. Science 237, 652-654.
85. Williams, B. J., Ballenger, C. A., Malter, H. E., Bishop, F., Tucker, M., Zwingman, T. A. and Hassold, T. J. (1993). Non-disjunction in human sperm: Results of fluorescence in situ hybridization studies using two and three probes. Hum. Mol. Genet. 11, 1929-1936.
86. Wolstenholme, J. (1995). An audit of trisomy 16 in man. Prenatal Diagn. 15, 109-121.
87. Wyrobek, A. J., Rubes, J., Cassel, M., Moore, D., Perreaulte, S., Slott, U., Evenson, D., Zudova, Z., Borkovec, L., Selevan, S., and Lowe, X. (1995). Smokers produce more aneuploid sperm than non-smokers. Am. J. Hum. Genet. 57, 55 737.
88. Ya-gang, X., Robinson, W. P., Spiegel, R., Binkert, F., Rucfenacht, U., and Schinzel, A. A. (1993). Parental origin of the supernumerary chromosome in trisomy 18. Clin. Genet. 44, 57-61.
89. Zaragoza, M. V., Jacobs, P. A., James, R. S., Rogan, P., Sherman, S., and Hassold, T. (1994). Non-disjunction of human acrocentric chromosomes: Studies of 432 trisomie fetuses and liveborns. Hum. Genet. 94, 411-417.