Human aneuploidy: Incidence, origin and etiology

Environmental and Molecular Mutagenesis

Volumn 28, Issue 3, 1996, Pages 167-175

  Hassold, Terry ^a,c   Abruzzo, Michael ^a,b   Adkins, Kenneth ^a   Griffin, Darren ^a   Merrill, Michelle ^a   Millie, Elise ^a   Saker, Denise ^a   Shen, Joseph ^a   Zaragoza, Michael ^a  

^a CASE WESTERN RESERVE UNIVERSITY   (United States)

^b CALIFORNIA STATE UNIVERSITY   (United States)

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

Author keywords

Chromosome abnormality; Human; Oneuploidy

Indexed keywords

ANEUPLOIDY; CHROMOSOME ABERRATION; CONFERENCE PAPER; CYTOGENETICS; ETIOLOGY; HUMAN; INCIDENCE; NONHUMAN; OOCYTE; PREGNANCY; SPERMATOZOON; TRISOMY;

ABORTION, SPONTANEOUS; ANEUPLOIDY; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; FEMALE; FERTILIZATION; FETAL DEATH; HUMANS; INCIDENCE; INFANT, NEWBORN; MALE; MATERNAL AGE; OOCYTES; PREGNANCY; RECOMBINATION, GENETIC; SPERMATOZOA; TRISOMY;

EID: 0029818072     PISSN: 08936692     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-2280(1996)28:3<167::AID-EM2>3.0.CO;2-B     Document Type: Conference Paper

References (39)

1. Abruzzo MA, Hassold TJ (1995): The etiology of nondisjunction in humans. Environ Mol Mutagen 25(Suppl. 2):38-47.
2. Angell RR (1995): Mechanisms of chromosome non-disjunction in human oocytes. In Epstein CJ (ed): "Etiology in Pathogenesis of Down Syndrome." New York: Wiley-Liss, pp 13-26.
3. Angell RR, Hillier SG, West JD, Glasier AF, Rodger MW, Baird DT (1988): Chromosome abnormalities in early human embryos. J Reprod Fertil 36(Suppl):73-81.
4. Angell RR, Xian J, Keith J, Ledger W, Baird DT (1994): First meiotic division abnormalities in human oocytes: Mechanism of trisomy formation. Cytogenet Cell Genet 65:194-202.
5. Antonarakis SE, Avramopoulos D, Blouin J-L, Talbot CC Jr, Schinzel AA (1993): Mitotic errors in somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age. Nature Genet 3:146-150.
6. Ayme S, Lippman-Hand A (1982): Maternal-age effect in aneuploidy: Does altered embryonic selection play a role? Am J Hum Genet 34:558-565.
7. 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.
8. Bridges CB (1916): Nondisjunction as proof of the chromosome theory of heredity. Genetics 1:1-52, 107-163.
9. Crowley PH, Gulati DK, Hayden TL, Lopez P, Dyer R (1979): A chiasma-hormonal hypothesis relating Down's syndrome and maternal age. Nature 280:417-418.
10. Fisher JM, Harvey JF, Morton 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.
11. Gaulden ME (1992): Maternal age effect: The enigma of Down syndrome and other trisomic conditions. Mutat Res 296:69-88.
12. Griffin D, Abruzzo M, Millie E, Sheean L, Sherman S, Hassold T (1995): Non-disjunction studies of human sperm: Evidence for a paternal age effect on trisomy. Hum Mol Genet 4:2227-2232.
13. Han TL, Webb G, Flaherty S, Correll A, Matthews C, Ford J (1992): Detection of chromosome 17-and X-bearing human spermatozoa using fluorescence in situ hybridization. Mol Reprod Dev 33:189-194.
14. Hassold T (1986): Chromosome abnormalities in human reproductive wastage. Trends Genet 2:105-110.
15. Hassold T, Jacobs PA (1984): Trisomy in man. Annu Rev Genet 18:69-97.
16. Hassold T, 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.
17. Hassold T, Pettay D, Robinson A, Uchida I (1992): Molecular studies of parental origin and mosaicism in 45,X conceptases. Hum Genet 89:647-652.
18. Hassold T, Merrill M, Adkins K, Freeman S, Sherman S (1995): Recombination and maternal-age dependent non-disjunction: Molecular studies of trisomy 16. Am J Hum Genet 57:867-874.
19. Hawley RS, McKim K, Arbel T (1993): Meiotic segregation in Drosophila melanogaster females: Molecules, mechanisms and myths. Annu Rev Genet 27:281-317.
20. Hawley RS, Frazier J, Rasooly R (1994): Separation anxiety: The biology of non-disjunction in flies and people. Hum Mol Genet 3:1521-1528.
21. Henderson SA, Edwards RG (1968): Chiasma frequency and maternal age in mammals. Nature 218:22-28.
22. Jacobs PA (1992): The chromosome complement of human gametes. Oxford Rev Reprod Biol 14:48-72.
23. Jacobs PA, Hassold T, Harvey J, May K (1989): The origin of sex chromosome aneuploidy. In Hassold TJ, Epstein CJ (eds): "Molecular and Cytogenetic Studies of Non-Disjunction." New York: Alan R. Liss, pp 135-152.
24. Jamieson ME, Coutts J, Connor JM (1994): The chromosome constitution of human preimplantation embryos fertilized in vitro. Hum Reprod 9:709-715.
25. 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.
26. Mascari MJ, Ladda RL, Woodage T, Trent RJ, Lai LW, Erickson 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(Suppl):260.
27. Penrose LS (1933): The relative effects of paternal and maternal age in mongolism. J Genet 27:219-224.
28. Peterson MB, Antonarakis SE, Hassold TJ, Freeman SB, Sherman SL, Mikelsen M (1993): Paternal nondisjunction in trisomy 21. Hum Mol Genet 2:1691-1695.
29. Risch N, Stein Z, Kline J, Warburton D (1986): The relationship between maternal age and chromosome size in autosomal trisomy. Am J Hum Genet 39:68-78.
30. 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.
31. Rockmill B, Roeder GS (1994): The yeast med 1 mutant undergoes both meiotic homolog nondisjunction and precocious separation of sister chromatids. Genetics 136:65-74.
32. Schmitt K, Lazzeroni LC, Foote S, Vollrath D, Fisher E, Goradia TM, Lange K, Page DC, Amheim N (1994): Multipoint linkage map of the human pseudoautosomal region, based on single-sperm typing: Do double crossovers occur during male meiosis? Am J Hum Genet 55:423-430.
33. Sherman SL, Takaesu N, Freeman SB, Grantham M, Phillips C, Blackston RD, Jacobs PA, Cockwell AE, Freeman V, Uchida I, Mikkelsen M, Kurnit DM, Buraczynska M, Keats BJB, Hassold TJ (1991): Trisomy 21: Association between reduced recombination and non-disjunction. Am J Hum Genet 49:608-620.
34. Sherman SL, Petersen MB, Freeman SB, Hersey J, Pettay D, Taft L, Frantzen M, Mikkelsen M, Hassold TJ (1994): Nondisjunction of chromosome 21 in maternal meiosis I: Evidence for a maternal-age dependent mechanism involving reduced recombination. Hum Mol Genet 3:1529-1535.
35. Spriggs E, Rademaker A, Martin RH (1995): Aneuploidy in human sperm: Results of two- and three-colour fluorescence in situ hybridization using centromeric probes for chromosomes 1, 12, 15, 18, X, and Y. Cytogenet Cell Genet 71:47-53.
36. Warburton D (1989): The effect of maternal age on the frequency of trisomy: Change in meiosis or in utero selection? In Hassold TJ, Epstein CJ (eds): "Molecular and Cytogenetic Studies of NonDisjunction." New York: Alan R. Liss, pp 165-181.
37. Warren AC, Chakravarti A, Wong C, Slaugenhaupt SA, Halloran SL, Watkins PC, Metaxotou C, et al. (1987): Evidence for reduced recombination on the nondisjoined chromosomes 21 in Down syndrome. Science 237:652-654.
38. Williams BJ, Ballenger CA, Malter HE, Bishop F, Tucker M, Zwingman TA, Hassold TJ (1993): Nondisjunction in human sperm: Results of fluorescence in situ hybridization studies using two and three probes. Hum Mol Genet 2:1929-1936.
39. Wyrobek AJ, Robbins WA, Tang C, Kobayashi A, Baulch J, Weier HU, Pinkel D (1993): Hierarchial organization of human sperm chromatin is a critical factor in the detection of chromosomal aneuploidy by fluorescence in situ hybridization. Am J Hum Genet 53(Suppl):130.