Risk factors for nondisjunction of trisomy 21

Cytogenetic and Genome Research

Volumn 111, Issue 3-4, 2005, Pages 273-280

  Sherman, S L ^a   Freeman, S B ^a   Allen, E G ^a   Lamb, N E ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME 21; CHROMOSOME ABERRATION; DOWN SYNDROME; ENVIRONMENTAL FACTOR; GENETIC RECOMBINATION; GENOME; HEREDITY; HUMAN; MATERNAL AGE; MATERNAL WELFARE; MEIOSIS; MULTIFACTORIAL INHERITANCE; NONDISJUNCTION; OOCYTE; OOCYTE DEVELOPMENT; PATERNAL AGE; PRIORITY JOURNAL; REVIEW; RISK FACTOR; SPERMATOGENESIS; TRISOMY 21;

ADOLESCENT; ADULT; DOWN SYNDROME; FEMALE; HUMANS; MALE; MATERNAL AGE; MIDDLE AGED; MODELS, GENETIC; NONDISJUNCTION, GENETIC; PREGNANCY; RISK FACTORS;

EID: 26244465306     PISSN: 14248581     EISSN: None     Source Type: Journal    
DOI: 10.1159/000086900     Document Type: Review

References (87)

1. Alfi OS, Chang R, Azen SP: Evidence for genetic control of nondisjunction in man. Am J Hum Genet 32:477-483 (1980).
2. Antonarakis SE, Petersen MB, McInnis MG, Adelsberger PA, Schinzel AA, Binkert F, Pangalos C, Raoul O, Slaugenhaupt SA, Hafez M: The meiotic stage of nondisjunction in trisomy 21: determination by using DNA polymorphisms. Am J Hum Genet 50:544-550 (1992).
3. Antonarakis SE, Avramopoulos D, Blouin JL, Talbot CC Jr, Schinzel AA: Mitotic errors in somatic cells cause trisomy 21 in about 4.5 % of cases and are not associated with advanced maternal age. Nat Genet 3:146-150 (1993).
4. Ballesta F, Queralt R, Gomez D, Solsona E, Guitart M, Ezquerra M, Moreno J, Oliva R: Parental origin and meiotic stage of non-disjunction in 139 cases of trisomy 21. Ann Genet 42:11-15 (1999).
5. Basaran N, Cenani A, Sayli BS, Ozkinay C, Artan S, Seven H, Basaran A, Dincer S: Consanguineous marriages among parents of Down patients. Clin Genet 42:13-15 (1992).
6. Blanco J, Gabau E, Gomez D, Baena N, Guitart M, Egozcue J, Vidal F: 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 (1998).
7. Book JA, Fraccaro M, Lindsten J: Cytogenetical observations in Mongolism. Acta Paediatr 48:453-468 (1959).
8. Boue J, Boue A: Increased frequency of chromosomal anomalies after induced ovulation. Lancet i:679-680 (1973).
9. Brown AS, Feingold E, Broman KW, Sherman SL: Genome-wide variation in recombination in female meiosis: a risk factor for non-disjunction of chromosome 21. Hum Mol Genet 9:515-523 (2000).
10. Buwe A, Guttenbach M, Schmid M: Effect of paternal age on the frequency of cytogenetic abnormalities in human spermatozoa. Cytogenet Genome Res 111:213-228 (2005).
11. Carothers AD, Hecht CA, Hook EB: International variation in reported livebirth prevalence rates of Down syndrome, adjusted for maternal age. J Med Genet 36:386-393 (1999).
12. Carothers AD, Castilla EE, Dutra MG, Hook EB: Search for ethnic, geographic, and other factors in the epidemiology of Down syndrome in South America: analysis of data from the ECLAMC project, 1967-1997. Am J Med Genet 103:149-156 (2001).
13. Chan A: Invited commentary: Parity and the risk of Down's syndrome - caution in interpretation. Am J Epidemiol 158:509-511 (2003).
14. Chen CL, Gilbert TJ, Daling JR: Maternal smoking and Down syndrome: the confounding effect of maternal age. Am J Epidemiol 149:442-446 (1999).
15. Christianson RE, Sherman SL, Torfs CP: Maternal meiosis II nondisjunction in trisomy 21 is associated with maternal low socioeconomic status. Genet Med 6:487-494 (2004).
16. Cuckle HS, Alberman E, Wald NJ, Royston P, Knight G: Maternal smoking habits and Down's syndrome. Prenat Diagn 10:561-567 (1990).
17. Devoto M, Prosperi L, Bricarelli FD, Coviello DA, Croci G, Zelante L, Ferranti G, Tenconi R, Stomeo C, Romeo G: Frequency of consanguineous marriages among parents and grandparents of Down patients. Hum Genet 70:256-258 (1985).
18. Down JL: Observations of an ethnic classification of idiots. Clin Lect Rep London Hosp 3:259-262 (1866).
19. Eichenlaub-Ritter U: Parental age-related aneuploidy in human germ cells and offspring: a story of past and present. Environ Mol Mutagen 28:211-236 (1996).
20. Fisch H, Hyun G, Golden R, Hensle TW, Olsson CA, Liberson GL: The influence of paternal age on Down syndrome. J Urol 169:2275-2278 (2003).
21. Ford CE, Jones KW, Miller OJ, Mittwoch U, Penrose LS, Ridler M, Shapiro A: The chromosomes in a patient showing both Mongolism and the Klinefelter syndrome. Lancet 1:709-710 (1959).
22. Freeman SB, Yang Q, Allran K, Taft LF, Sherman SL: Women with a reduced ovarian complement may have an increased risk for a child with Down syndrome. Am J Hum Genet 66:1680-1683 (2000).
23. Gaulden ME: Maternal age effect: the enigma of Down syndrome and other trisomic conditions. Mutat Res 296:69-88 (1992).
24. Gomez D, Solsona E, Guitart M, Baena N, Gabau E, Egozcue J, Caballin MR: Origin of trisomy 21 in Down syndrome cases from a Spanish population registry. Ann Genet 43:23-28 (2000).
25. Hamamy HA, al Hakkak ZS, al Taha S: Consanguinity and the genetic control of Down syndrome. Clin Genet 37:24-29 (1990).
26. Harlap S, Shiono PH, Pellegrin F, Golbus M, Bachman R, Mann J, Schmidt L, Lewis JP: Chromosome abnormalities in oral contraceptive breakthrough pregnancies. Lancet i:1342-1343 (1979).
27. Hassold TJ, Sherman SL, Pettay D, Page DC, Jacobs PA: XY chromosome nondisjunction in man is associated with diminished recombination in the pseudoautosomal region. Am J Hum Genet 49:253-260 (1991).
28. Hixon M, Millie E, Judis LA, Sherman S, Allran K, Taft L, Hassold T: 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 (1998).
29. Hook EB: Down syndrome rates and relaxed selection at older maternal ages. Am J Hum Genet 35:1307-1313 (1983).
30. Hook EB, Cross PK: Cigarette smoking and Down syndrome. Am J Hum Genet 37:1216-1224 (1985).
31. Hook EB, Cross PK: Maternal cigarette smoking, Down syndrome in live births, and infant race. Am J Hum Genet 42:482-489 (1988).
32. Hook EB, Mutton DE, Ide R, Alberman E, Bobrow M: The natural history of Down syndrome conceptuses diagnosed prenatally that are not electively terminated. Am J Hum Genet 57:875-881 (1995).
33. Huether CA, Martin RL, Stoppelman SM, D'Souza S, Bishop JK, Torfs CP, Lorey F, May KM, Hanna JS, Baird PA, Kelly JC: Sex ratios in fetuses and livebom infants with autosomal aneuploidy. Am J Med Genet 63:492-500 (1996).
34. Jacobs PA, Baikie AG, Court Brown WM, Strong JA: The somatic chromosomes in Mongolism. Lancet 1:710 (1959).
35. James SJ: Maternal metabolic phenotype and risk of Down syndrome: beyond genetics. Am J Med Genet A 127:1-4 (2004a).
36. James SJ: Response to letter: Down syndrome and folic acid deficiency. Am J Med Genet 131A:328-329 (2004b).
37. James SJ, Pogribna M, Pogribny IP, Melnyk S, Hine RJ, Gibson JB, Yi P, Tafoya DL, Swenson DH, Wilson VL, Gaylor DW: Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome. Am J Clin Nutr 70:495-501 (1999).
38. Jyothy A, Kumar KS, Mallikarjuna GN, Babu Rao V, Uma DB, Sujatha M, Reddy PP: Parental age and the origin of extra chromosome 21 in Down syndrome. J Hum Genet 46:347-350 (2001).
39. Kallen K: Down's syndrome and maternal smoking in early pregnancy. Genet Epidemiol 14:77-84 (1997).
40. Kaufman M: Ethanol-induced chromosomal abnormalities at conception. Nature 302:258-260 (1983).
41. Kazaura MR, Lie RT: Down's syndrome and paternal age in Norway. Paediatr Perinat Epidemiol 16:314-319 (2002).
42. Kline J, Levin B, Shrout P, Stein Z, Susser M, Warburton D: Maternal smoking and trisomy among spontaneously aborted conceptions. Am J Hum Genet 35:421-431 (1983).
43. Kline J, Levin B, Stein Z, Warburton D, Hindin R: Cigarette smoking and trisomy 21 at amniocentesis. Genet Epidemiol 10:35-42 (1993).
44. Koehler KE, Boulton CL, Collins HE, French RL, Herman KC, Lacefield SM, Madden LD, Schuetz D, Hawley RS: Spontaneous X chromosome non-disjunction events occurring at MI and MII in Drosophila melanogaster oocytes have different recombinational histories. Nat Genet 14:406-413 (1996).
45. Krawchuk MD, Wahls WP: Centromere mapping functions for aneuploid meiotic products: Analysis of rec8, rec10 and rec11 mutants of the fission yeast Schizosaccharomyces pombe. Genetics 153:49-55 (1999).
46. Lamb NE, Freeman SB, 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: Susceptible chiasmate configurations of chromosome 21 predispose to non-disjunction in both maternal meiosis I and meiosis II. Nat Genet 14:400-405 (1996).
47. Lamb NE, Feingold E, Savage A, Avramopoulos D, Freeman S, Gu Y, Hallberg A, Hersey J, Karadima G, Pettay D, Saker D, Shen J, Taft L, Mikkelsen M, Petersen MB, Hassold T, Sherman SL: Characterization of susceptible chiasma configurations that increase the risk for maternal nondisjunction of chromosome 21. Hum Mol Genet 6:1391-1399 (1997).
48. Lamb NE, Sherman SL, Hassold TJ: Effect of meiotic recombination on the production of aneuploid gametes in human. Cytogenet Genome Res 111:250-255 (2005a).
49. Lamb NE, Yu K, Shaffer J, Feingold E, Sherman SL: An association between maternal age and meiotic recombination for trisomy 21. Am J Hum Genet 76:91-99 (2005b).
50. Lejeune J: Le Mongolisme. Premier exemple d'aberration autosomique humaine. Ann Genet 1:41-49 (1959).
51. Mikkelsen M, Poulsen H, Nielsen KG: Incidence, survival, and mortality in Down syndrome in Denmark. Am J Med Genet Suppl 7:75-78 (1990).
52. Mikkelsen M, Hallberg A, Poulsen H, Frantzen M, Hansen J, Petersen MB: Epidemiology study of Down's syndrome in Denmark, including family studies of chromosomes and DNA markers. Dev Brain Dysfunct 8:4-12 (1995).
53. Moore DP, Miyazaki WY, Tomkiel JE, Orr-Weaver TL: Double or nothing: a Drosophila mutation affecting meiotic chromosome segregation in both females and males. Genetics 136:953-964 (1994).
54. Muller F, Rebiffe M, Taillandier A, Oury JF, Mornet E: Parental origin of the extra chromosome in prenatally diagnosed fetal trisomy 21. Hum Genet 106:340-344 (2000).
55. Nielsen J, Jacobsen P, Mikkelsen M, Niebuhr E, Sorensen K: Sex ratio in Down syndrome. Ann Genet 24:212-215 (1981).
56. Padmanabhan VT, Sugunan AP, Brahmaputhran CK, Nandini K, Pavithran K: Heritable anomalies among the inhabitants of regions of normal and high background radiation in Kerala: results of a cohort study, 1988-1994. Int J Health Serv 34:483-515 (2004).
57. Penrose LS: The relative effects of paternal and maternal age in Mongolism. J Genet 27:219-224 (1933).
58. Petersen MB, Antonarakis SE, Hassold TJ, Freeman SB, Sherman SL, Avramopoulos D, Mikkelsen M: Paternal nondisjunction in trisomy 21: excess of male patients. Hum Mol Genet 2:1691-1695 (1993).
59. Rasooly RS, New CM, Zhang P, Hawley RS, Baker BS: The lethal(1)TW-6cs mutation of Drosophila melanogaster is a dominant antimorphic allele of nod and is associated with a single base change in the putative ATP-binding domain. Genetics 129:409-422 (1991).
60. Rittler M, Liascovich R, Lopez-Camelo J, Castilla EE: Parental consanguinity in specific types of congenital anomalies. Am J Med Genet 102:36-43 (2001).
61. Roberts DF, Roberts MJ, Johnston AW: Genetic epidemiology of Down's syndrome in Shetland. Hum Genet 87:57-60 (1991).
62. Robinson W, Kuckinka BD, Bernascoi F, Brondum-Neilsen K, Christian S, Horsthemke B, Langlois S, Ledbetter D, Michaelis R, Petersen M, Schinzel A, Schuffenhauer S, Schulze A, Hassold T: Maternal meiosis I nondisjunction of chromosome 15: dependence of the maternal age effect on the level of recombination. Hum Mol Genet 7:1011-1109 (1998).
63. Rogan PK, Sabol DW, Punnett HH: Maternal uniparental disomy of chromosome 21 in a normal child. Am J Med Genet 83:69-71 (1999).
64. Ross LO, Maxfield R, Dawson D: Exchanges are not equally able to enhance meiotic chromosome segregation in yeast. Proc Natl Acad Sci USA 93:4979-4983 (1996).
65. Rothman KJ: Spermicide use and Down's syndrome. Am J Public Health 72:399-401 (1983).
66. Savage AR, Petersen MB, Pettay D, Taft L, Allran K, Freeman SB, Karadima G, Avramopoulos D, Torfs C, Mikkelsen M, Hassold TJ, Sherman SL: Elucidating the mechanisms of paternal non-disjunction of chromosome 21 in humans. Hum Mol Genet 7:1221-1227 (1998).
67. Sayee R, Thomas IM: Consanguinity, non-disjunction, parental age and Down's syndrome. J Indian Med Assoc 96:335-337 (1998).
68. Sears DD, Hegemann JH, Shero JH, Hieter P: Cis-acting determinants affecting centromere function, sister-chromatid cohesion and reciprocal recombination during meiosis in Saccharomyces cerevisiae. Genetics 139:1159-1173 (1995).
69. Shiono PH, Klebanoff MA, Berendes HW: Congenital malformations and maternal smoking during pregnancy. Teratology 34:65-71 (1986).
70. Soares SR, Templado C, Blanco J, Egozcue J, Vidal F: 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 (2001).
71. Stoll C, Alembik Y, Dott B, Roth MP: Study of Down syndrome in 238,942 consecutive births. Ann Genet 41:44-51 (1998).
72. Strigini P, Pierluigi M, Forni GL, Sansone R, Carobbi S, Grasso M, Dagna BF: Effect of x-rays on chromosome 21 nondisjunction. Am J Med Genet Suppl 7:155-159 (1990).
73. Strobino B, Kline J, Lai A, Stein Z, Susser M, Warburton D: Vaginal spermicides and spontaneous abortion of known karyotype. Am J Epidemiol 123:431-443 (1986).
74. Thomas NS, Ennis S, Sharp AJ, Durkie M, Hassold TJ, Collins AR, Jacobs PA: Maternal sex chromosome non-disjunction: evidence for X chromosome-specific risk factors. Hum Mol Genet 10:243-250 (2001).
75. Torfs CP, Christianson RE: Effect of maternal smoking and coffee consumption on the risk of having a recognized Down syndrome pregnancy. Am J Epidemiol 152:1185-1191 (2000).
76. Torfs CP, Christianson RE: Socioeconomic effects on the risk of having a recognized pregnancy with Down syndrome. Birth Defects Res Part A Clin Mol Teratol 67:522-528 (2003).
77. Uchida I: Radiation-induced nondisjunction. Environ Health Perspect 31:13-18 (1979).
78. van Montfrans JM, Dorland M, Oosterhuis GJ, Van Vugt JM, Rekers-Mombarg LT, Lambalk CB: Increased concentrations of follicle-stimulating hormone in mothers of children with Down's syndrome. Lancet 353:1853-1854 (1999).
79. van Montfrans JM, Bakker PS, Rekers-Mombarg LT, van Weissenbruch MM, Lambalk CB: Birth weight corrected for gestational age is related to the incidence of Down's syndrome pregnancies. Twin Res 4:318-320 (2001).
80. Warburton D: The effect of maternal age on the frequency of trisomy: change in meiosis or in utero selection? Prog Clin Biol Res 311:165-181 (1989).
81. Warburton D: Biological aging and the etiology of aneuploidy. Cytogenet Genome Res 111:266-272 (2005).
82. Warren AC, Chakravarti A, Wong C, Slaugenhaupt SA, Halloran SL, Watkins PC, Metazotou C: Evidence for reduced recombination on the nondisjoined chromosome 21 in Down syndrome. Science 237:652-654 (1987).
83. Yang Q, Sherman SL, Hassold TJ, Allran K, Taft L, Pettay D, Khoury MJ, Erickson JD, Freeman SB: Risk factors for trisomy 21: maternal cigarette smoking and oral contraceptive use in a population-based case-control study. Genet Med 1:80-88 (1999).
84. Yoon PW, Freeman SB, Sherman SL, Taft LF, Gu Y, Pettay D, Flanders WD, Khoury MJ, Hassold TJ: Advanced maternal age and the risk of Down syndrome characterized by the meiotic stage of chromosomal error: a population-based study. Am J Hum Genet 58:628-633 (1996).
85. Zaragoza MV, Jacobs PA, James RS, Rogan P, Sherman S, Hassold T: Nondisjunction of human aerocentric chromosomes: studies of 432 trisomic fetuses and liveborns. Hum Genet 94:411-417 (1994).
86. Zetka MC, Rose AM: Mutant rec-1 eliminates the meiotic pattern of crossing over in Caenorhabditis elegans. Genetics 141:1339-1349 (1995).
87. Zlotogora J: Genetic disorders among Palestinian Arabs: 1. Effects of consanguinity. Am J Med Genet 68:472-475 (1997).