Non-disjunction in human sperm: Evidence for an effect of increasing paternal age

Human Molecular Genetics

Volumn 4, Issue 12, 1995, Pages 2227-2232

  Griffin, Darren K ^d   Abruzzo, Michael A ^d   Millie, Elise A ^d   Sheean, Leon A ^a   Feingold, Eleanor ^b   Sherman, Stephanie L ^c   Hassold, Terry J ^d  

^a UNIVERSITY HOSPITALS OF CLEVELAND   (United States)

^b EMORY UNIVERSITY   (United States)

^c EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ANEUPLOIDY; ARTICLE; CHROMOSOME 18; CONTROLLED STUDY; DISOMY; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; INCIDENCE; KARYOTYPE 46,XX; KARYOTYPE 46,XY; MALE; MATERNAL AGE; NONDISJUNCTION; NORMAL HUMAN; PATERNAL AGE; PRIORITY JOURNAL; SEX CHROMOSOME; SPERM; TRISOMY;

ADOLESCENT; ADULT; ANEUPLOIDY; CHROMOSOMES, HUMAN, PAIR 18; DIPLOIDY; HUMAN; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MIDDLE AGE; NONDISJUNCTION, GENETIC; PATERNAL AGE; SPERMATOZOA; SUPPORT, U.S. GOV'T, P.H.S.;

EID: 0028792586     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/4.12.2227     Document Type: Article

References (44)

1. Penrose LS and Smith GF (1966) Down’s Anomaly. Churchill, London.
2. Hassold T and Chiu D (1985) Maternal age specific rates of numerical chromosome abnomalities with specific reference to trisomy. Hum. Genet., 70, 11-17.
3. Penrose LS (1933) The relative effects of paternal and maternal age in mongolism. J. Genet., 27, 219-224.
4. Hook EB and Cross PK (1982) Paternal age and Down’s syndrome genotypes diagnosed prenatally: no association in New York State data. Hum. Genet., 62, 167-174.
5. Cross PK and Hook EB (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.
6. Hook EB (1987) Appendix, 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.
7. Erickson JD (1978) Down syndrome, paternal age, maternal age and birth order. Ann. Hum. Genet., 41, 289-298.
8. de Michelena MI, Burstein E, Lama JR and Vasquez JC (1993) Paternal age as a risk factor for Down syndrome. Am. J. Med. Genet., 45, 679-682.
9. Stene J, Fischer G, Stene E, Mikkelsen M and Petersen E (1977) Paternal age effect in Down’s syndrome. Ann. Hum. Genet., 40, 299-306.
10. 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.
11. Stene J and Stene E (1978) On data and methods in investigations on parental age effects. Ann. Hum. Genet., 41, 465-468.
12. Stene J, Stene E, Stengel-Rutowski S and Murken JD (1981) Paternal age and Down’s syndrome. Hum. Genet., 59, 119-124.
13. Stene E, Stene J and Stengel-Rutkowski S (1987) On methodological issues regarding 47,+21 paternal age data. Hum. Genet., 77, 317.
14. Hook EB (1987) Issues in analysis of data on paternal age and 47, +21, implications for genetic counselling for Down syndrome. Hum. Genet., 77, 303-306.
15. Stene E, Stene J, Stengel S. and Rutkowski S (1987) A reanalysis of the New York State prenatal diagnosis data on Down’s syndrome and paternal age effects. Hum. Genet., 77, 299-302.
16. Stene E and Stene J (1989) Controversy concerning paternal age effect in 47, + 21 Down’s syndrome. Hum. Genet., 81, 300-301.
17. Carothers AD (1988) Controversy concerning paternal age effect in 47, + 21 Down’s syndrome. Hum. Genet., 78, 384-385.
18. Hook EB, Cross PK and Regal RR (1990) Factual, statistical and logical issues in the search for a paternal age effect for Down syndrome. Hum. Genet., 85, 387-388.
19. Warburton D (1983) Parental age and X-chromosome aneuploidy. In AA Sandberg (ed.) Cytogenetics of the Mammalian X Chromosome, Part B. X chromosome anomalies and their clinical manifestations, Alan R. Liss.
20. Carothers AD, Collyer S, De Mey R and Frackiewicz A (1978) Parental age and birth order in the aetiology of some sex chromosome aneuploidies. Ann. Hum. Genet., 41, 277-287.
21. 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 and Hassold TJ (1991) Trisomy 21, Association between reduced recombination and non-disjunction. Am. J. Hum. Genet., 49, 608-620.
22. Petersen MB, Antonarkis SE, Hassold TJ, Freeman SB, Sherman SL, Avrampolous D and Mikkelsen M (1993) Paternal nondisjunction in trisomy 21, excess of male patients. Hum. Mol. Genet., 2, 1691-1695.
23. Lorda-Sanchez I, Binkert F, Maechler M, Robinson WP and Schinzel AA (1992) Reduced recombination and paternal age effect in Klinefelter syndrome. Hum. Genet., 89, 524-530.
24. Robinson WP, Lorda-Sanchez I, Malcolm S, Langlois S, Shuffenhauer S, Knoblauch H, Horsthemke B and Schinzel AA (1993) Increased parental ages and uniparental disomy 15, a paternal age effect? Eur. J. Hum. Genet., 1, 280-286.
25. Ya-gang X, Robinson WP, Spiegel R, Binkfert F, Ruenfenacht U and Schinzel AA (1993) Parental origin of the supernumary chromosome in trisomy 18. Clin. Genet., 44, 57-61.
26. Macdonald M, Hassold T, Harvey J, Wang LH, Morton NE and Jacobs P (1994) The origin of 47, XX Y and 47, XXX aneuploidy, heterogeneous mechanisms and role of aberrant recombination. Hum. Mol. Genet., 3, 1365-1371.
27. Zaragoza MV, Jacobs PA, James RS, 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.
28. Rudak E, Jacobs PA and Yanagimachi R (1978) Direct analysis of the chromosome constitution of human spermatozoa. Nature, 274, 911-913.
29. Holmes JM and Martin RH (1993) Aneuploidy detection in human sperm nuclei using fluoresence in-situ hybridization. Hum. Genet., 91, 20-24.
30. Martin RH and Rademaker AW (1987) The effect of age on the frequency of sperm chromosomal abnormalities in normal men. Am. J. Hum. Genet., 41, 484-492.
31. Guttenbach M and Shmid M (1990) Determination of Y chromosome aneuploidy in human sperm nuclei by non-radioactive in situ hybridization. Am. J. Hum. Genet., 46, 553-558.
32. Han TL, Webb GC, Flaherty SP, Correll A, Matthews CD and Ford JH (1992) Detection of human sperm chromosome 17 and X-bearing human spermatozoa using fluorescence in-situ hybridization. Mol. Reprod. Dev., 33, 189-194.
33. Martin RH, Robbins WA, Weier HU and Pinkel D (1992) Detection of human sperm carrying sex-chromosomal and autosomal aneuploidies using one, two and three colour fluorescence in-situ hybridisations. Am. J. Hum. Genet., 51 (Suppl), A23.
34. Williams BJ, Balleneger CA, Malter HE, Bishop F, Tucker M, Zwingman TA and Hassold TJ (1993) Non-disjunction in human sperm, results of fluorescence in-situ hybridization studies using two and three probes. Hum. Mol. Genet., 2, 1929-1936.
35. Bischoff FZ, Nguyen DD, Burt KJ and Shaffer LG (1994) Estimates of aneuploidy using multicolor fluorescence in-situ hybridization on human sperm. Cytogenet. Cell Genet., 66, 237-243.
36. Vital Statistics of the United States (1992) Natality. National Center for Health Statistics, in press.
37. Hassold TJ, Sherman SL, Pettay D, Page DC and Jacobs PA (1991) XY chromosome nondisjunction in man is associated with diminished recombination in the pseudoautosomal region. Am. J. Hum. Genet., 49, 253-260.
38. Schlumpf KL, Kim D and Haines J. (1994) Patterns of recombination on chromosome 22. Am. J. Hum. Genet., 55 (Suppl), A202.
39. Hawley RS, Frazier JA and Rasooly R (1994) Separation anxiety, the etiology of nondisjunction in flies and people. Hum. Mol. Genet., 3, 1521-1528.
40. Schmitt K, Lazzeroni LC, Foote S, Vollrath D, Fisher EMC, Goradia TM, Lange K, Page DC and 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.
41. Galloway SM and Buckton KE (1978) Aneuploidy and ageing, chromosome studies on a random sample of the population using G-banding. Cytogenet. Cell Genet., 20, 78-95.
42. Richard F, Muleris M and Dutrillaux B (1994) The frequency of micronuclei with X chromosome increases with age in human females. Mutat. Res., 316, 1-7.
43. Wyrobek AJ, Robbins WA, Mehraein Y, Pinkel D and Weier H-U (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.
44. Spriggs E, Rademaker A and 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.