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Journal of Biomedicine and Biotechnology
Volume 2011, Article ID 370195, 9 pages
http://dx.doi.org/10.1155/2011/370195
Research Article

Cytogenetics of Premature Ovarian Failure: An Investigation on 269 Affected Women

1Dipartimento di Neuroscienze e Tecnologie Biomediche, Università degli Studi di Milano-Bicocca, Via Cadore 48, 20900 Monza, Italy
2US Genetica Medica, Ospedale San Gerardo, 20900 Monza, Italy
3Dipartimento di Biologia e Genetica per Scienze Mediche, Università degli Studi di Milano, 20133 Milano, Italy

Received 14 September 2010; Revised 11 November 2010; Accepted 14 December 2010

Academic Editor: Ricardo Benavente

Copyright © 2011 Simona Baronchelli et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. P. A. Jacobs, W. M. Court Brown, and R. Doll, “Distribution of human chromosome counts in relation to age,” Nature, vol. 191, no. 4794, pp. 1178–1180, 1961. View at Publisher · View at Google Scholar · View at Scopus
  2. P. A. Jacobs, M. Brunton, W. M. C. Brown, R. Doll, and H. Goldstein, “Change of human chromosome count distributions with age: evidence for a sex difference,” Nature, vol. 197, no. 4872, pp. 1080–1081, 1963. View at Publisher · View at Google Scholar · View at Scopus
  3. E. H. Kleisner De Galán, “Age and chromosomes,” Nature, vol. 211, no. 5055, pp. 1324–1325, 1966. View at Publisher · View at Google Scholar · View at Scopus
  4. J. S. Fang, G. Jagiello, M. Ducayen, and J. Graffeo, “Aging and X chromosome loss in the human ovary,” Obstetrics and Gynecology, vol. 45, no. 4, pp. 455–458, 1975. View at Google Scholar · View at Scopus
  5. J. M. Martin, J. M. Kellett, and J. Kahn, “Aneuploidy in cultured human lymphocytes: I. Age and sex differences,” Age and Ageing, vol. 9, no. 3, pp. 147–153, 1980. View at Google Scholar · View at Scopus
  6. N. Bukvic, M. Gentile, F. Susca et al., “Sex chromosome loss, micronuclei, sister chromatid exchange and aging: a study including 16 centenarians,” Mutation Research, vol. 498, no. 1-2, pp. 159–167, 2001. View at Publisher · View at Google Scholar · View at Scopus
  7. P. Neurath, K. Deremer, B. Bell, L. Jarvik, and T. Kato, “Chromosome loss compared with chromosome size, age and sex of subjects,” Nature, vol. 225, no. 5229, pp. 281–282, 1970. View at Publisher · View at Google Scholar · View at Scopus
  8. P. H. Fitzgerald and C. M. McEwan, “Total aneuploidy and age-related sex chromosome aneuploidy in cultured lymphocytes of normal men and women,” Human Genetics, vol. 39, no. 3, pp. 329–337, 1977. View at Google Scholar · View at Scopus
  9. F. Richard, A. Aurias, J. Couturier et al., “Aneuploidy in human lymphocytes: an extensive study of eight individuals of various ages,” Mutation Research, vol. 295, no. 2, pp. 71–80, 1993. View at Publisher · View at Google Scholar · View at Scopus
  10. M. Guttenbach, B. Koschorz, U. Bernthaler, T. Grimm, and M. Schmid, “Sex chromosome loss and aging: in situ hybridization studies on human interphase nuclei,” American Journal of Human Genetics, vol. 57, no. 5, pp. 1143–1150, 1995. View at Google Scholar · View at Scopus
  11. J. C. Hando, J. Nath, and J. D. Tucker, “Sex chromosomes, micronuclei and aging in women,” Chromosoma, vol. 103, no. 3, pp. 186–192, 1994. View at Publisher · View at Google Scholar · View at Scopus
  12. F. Richard, M. Muleris, and B. Dutrillaux, “The frequency of micronuclei with X chromosome increases with age in human females,” Mutation Research, vol. 316, no. 1, pp. 1–7, 1994. View at Publisher · View at Google Scholar · View at Scopus
  13. J. Catalán, K. Autio, E. Kuosma, and H. Norppa, “Age-dependent inclusion of sex chromosomes in lymphocyte micronuclei of man,” American Journal of Human Genetics, vol. 63, no. 5, pp. 1464–1472, 1998. View at Publisher · View at Google Scholar · View at Scopus
  14. A. Wojda, E. Zietkiewicz, and M. Witt, “Effects of age and gender on micronucleus and chromosome nondisjunction frequencies in centenarians and younger subjects,” Mutagenesis, vol. 22, no. 3, pp. 195–200, 2007. View at Publisher · View at Google Scholar · View at Scopus
  15. C. B. Coulam, “Premature gonadal failure,” Fertility and Sterility, vol. 38, no. 6, pp. 645–655, 1982. View at Google Scholar · View at Scopus
  16. T. Laml, O. Preyer, W. Umek, M. Hengstschlager, and E. Hanzal, “Genetic disorders in premature ovarian failure,” Human Reproduction Update, vol. 8, no. 5, pp. 483–491, 2002. View at Publisher · View at Google Scholar · View at Scopus
  17. D. Goswami and G. S. Conway, “Premature ovarian failure,” Human Reproduction Update, vol. 11, no. 4, pp. 391–410, 2005. View at Publisher · View at Google Scholar · View at Scopus
  18. A. Devi and P. A. Benn, “X-chromosome abnormalities in women with premature ovarian failure,” Journal of Reproductive Medicine for the Obstetrician and Gynecologist, vol. 44, no. 4, pp. 321–324, 1999. View at Google Scholar · View at Scopus
  19. D. Schlessinger, L. Herrera, L. Crisponi et al., “Genes and translocations involved in POF,” American Journal of Medical Genetics, vol. 111, no. 3, pp. 328–333, 2002. View at Publisher · View at Google Scholar · View at Scopus
  20. R. M. Davison, C. J. Davis, and G. S. Conway, “The X chromosome and ovarian failure,” Clinical Endocrinology, vol. 51, no. 6, pp. 673–679, 1999. View at Publisher · View at Google Scholar · View at Scopus
  21. G. S. Conway, “Premature ovarian failure,” British Medical Bulletin, vol. 56, no. 3, pp. 643–649, 2000. View at Google Scholar
  22. A. R. Zinn, “The X chromosome and the ovary,” Journal of the Society for Gynecologic Investigation, vol. 8, no. 1, supplement, pp. S34–S36, 2001. View at Google Scholar · View at Scopus
  23. C. M. Holland, “47,XXX in an adolescent with premature ovarian failure and autoimmune disease,” Journal of Pediatric and Adolescent Gynecology, vol. 14, no. 2, pp. 77–80, 2001. View at Publisher · View at Google Scholar · View at Scopus
  24. A. S. Devi, D. A. Metzger, A. A. Luciano, and P. A. Benn, “45,X/46,XX mosaicism in patients with idiopathic premature ovarian failure,” Fertility and Sterility, vol. 70, no. 1, pp. 89–93, 1998. View at Publisher · View at Google Scholar · View at Scopus
  25. B. Lakhal, R. Braham, R. Berguigua et al., “Cytogenetic analyses of premature ovarian failure using karyotyping and interphase fluorescence in situ hybridization (FISH) in a group of 1000 patients,” Clinical Genetics, vol. 78, no. 2, pp. 181–185, 2010. View at Google Scholar
  26. W. Vegetti, M. G. Tibiletti, G. Testa et al., “Inheritance in idiopathic premature ovarian failure: analysis of 71 cases,” Human Reproduction, vol. 13, no. 7, pp. 1796–1800, 1998. View at Google Scholar · View at Scopus
  27. M. G. Tibiletti, G. Testa, W. Vegetti et al., “The idiopathic forms of premature menopause and early menopause show the same genetic pattern,” Human Reproduction, vol. 14, no. 11, pp. 2731–2734, 1999. View at Publisher · View at Google Scholar · View at Scopus
  28. A. Marozzi, E. Manfredini, M. Tibiletti et al., “Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure,” Human Genetics, vol. 107, no. 4, pp. 304–311, 2000. View at Google Scholar · View at Scopus
  29. S. Mumm, L. Herrera, P. W. Waeltz et al., “X/autosomal translocations in the Xq critical region associated with premature ovarian failure fall within and outside genes,” Genomics, vol. 76, no. 1–3, pp. 30–36, 2001. View at Publisher · View at Google Scholar · View at Scopus
  30. M. F. Portnoï, A. Aboura, G. Tachdjian et al., “Molecular cytogenetic studies of Xq critical regions in premature ovarian failure patients,” Human Reproduction, vol. 21, no. 9, pp. 2329–2334, 2006. View at Publisher · View at Google Scholar · View at Scopus
  31. E. B. Hook, “Exclusion of chromosomal mosaicism: tables of 90%, 95%, and 99% confidence limits and comments on use,” American Journal of Human Genetics, vol. 29, no. 1, pp. 94–97, 1977. View at Google Scholar · View at Scopus
  32. A. B. Mukherjee and S. Thomas, “A longitudinal study of human age-related chromosomal analysis in skin fibroblasts,” Experimental Cell Research, vol. 235, no. 1, pp. 161–169, 1997. View at Publisher · View at Google Scholar · View at Scopus
  33. P. Maraschio and M. Fraccaro, “Phenotypic effects of X-chromosome deficiencies,” in Citogenetica of the Mammalian X Chromosome—part B: X Chromosome Anomalies and Their Clinical Manifestations, pp. 359–369, Alan R. Liss, New York, NY, USA, 1983. View at Google Scholar
  34. D. Bettio, P. Levi Setti, P. Bianchi, and V. Grazioli, “Trisomy 18 mosaicism in a woman with normal intelligence,” American Journal of Medical Genetics, vol. 120, no. 2, pp. 303–304, 2003. View at Google Scholar · View at Scopus
  35. S. Lissoni, S. Baronchelli, N. Villa et al., “Chromosome territories, X;Y translocation and premature ovarian failure: is there a relationship?” Molecular Cytogenetics, vol. 2, p. 19, 2009. View at Google Scholar
  36. A. Marozzi, W. Vegetti, E. Manfredini et al., “Association between idiopathic premature ovarian failure and fragile X premutation,” Human Reproduction, vol. 15, no. 1, pp. 197–202, 2000. View at Google Scholar · View at Scopus
  37. A. Marozzi, C. Porta, W. Vegetti et al., “Mutation analysis of the inhibin alpha gene in a cohort of Italian women affected by ovarian failure,” Human Reproduction, vol. 17, no. 7, pp. 1741–1745, 2002. View at Google Scholar · View at Scopus
  38. R. Rossetti, E. D. Pasquale, A. Marozzi et al., “BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein,” Human Mutation, vol. 30, no. 5, pp. 804–810, 2009. View at Publisher · View at Google Scholar · View at Scopus
  39. L. Hanson, I. Bryman, M. L. Barrenäs et al., “Genetic analysis of mosaicism in 53 women with Turner syndrome,” Hereditas, vol. 134, no. 2, pp. 153–159, 2001. View at Google Scholar · View at Scopus
  40. M. Cameron, S. Grover, P. Moore, and Y. Jayasinghe, “Non-chromosomal, non-iatrogenic premature ovarian failure in an adolescent population: a case series,” Journal of Pediatric and Adolescent Gynecology, vol. 21, no. 1, pp. 3–8, 2008. View at Publisher · View at Google Scholar · View at Scopus
  41. J. G. Hreinsson, M. Otala, M. Fridström et al., “Follicles are found in the ovaries of adolescent girls with Turner's syndrome,” Journal of Clinical Endocrinology and Metabolism, vol. 87, no. 8, pp. 3618–3623, 2002. View at Publisher · View at Google Scholar · View at Scopus
  42. A. B. Mukherjee, J. Alejandro, S. Payne, and S. Thomas, “Age-related aneuploidy analysis of human blood cells in vivo by fluorescence in situ hybridization (FISH),” Mechanisms of Ageing and Development, vol. 90, no. 2, pp. 145–156, 1996. View at Publisher · View at Google Scholar · View at Scopus
  43. A. B. Mukherjee, S. Thomas, and E. Schmitt, “Chromosomal analysis in young vs. senescent human fibroblasts by fluorescence in situ hybridization: a selection hypothesis,” Mechanisms of Ageing and Development, vol. 80, no. 1, pp. 11–23, 1995. View at Publisher · View at Google Scholar · View at Scopus
  44. R. C. Wu, P. L. Kuo, S. J. Lin, C. H. Liu, and C. C. Tzeng, “X chromosome mosaicism in patients with recurrent abortion or premature ovarian failure,” Journal of the Formosan Medical Association, vol. 92, no. 11, pp. 953–956, 1993. View at Google Scholar · View at Scopus
  45. G. P. Nowinski, D. L. Van Dyke, B. C. Tilley et al., “The frequency of aneuploidy in cultured lymphocytes is correlated with age and gender but not with reproductive history,” American Journal of Human Genetics, vol. 46, no. 6, pp. 1101–1111, 1990. View at Google Scholar · View at Scopus
  46. P. L. Kuo and H. R. Guo, “Mechanism of recurrent spontaneous abortions in women with mosaicism of X-chromosome aneuploidies,” Fertility and Sterility, vol. 82, no. 6, pp. 1594–1601, 2004. View at Publisher · View at Google Scholar · View at Scopus
  47. A. K. Moore, K. Lynch, M. J. Arny, and D. R. Grow, “Turner mosaicism (45,X/46,XX) diagnosed in a young woman subsequent to low oocyte maturity and failed ICSI,” Fertility and Sterility, vol. 90, no. 5, pp. 2012.e13–2012.e15, 2008. View at Publisher · View at Google Scholar · View at Scopus
  48. A. Wojda and M. Witt, “Manifestations of ageing at the cytogenetic level,” Journal of Applied Genetics, vol. 44, no. 3, pp. 383–399, 2003. View at Google Scholar · View at Scopus
  49. C. Bolognesi, A. Abbondandolo, R. Barale et al., “Age-related increase of baseline frequencies of sister chromatid exchanges, chromosome aberrations, and micronuclei in human lymphocytes,” Cancer Epidemiology Biomarkers and Prevention, vol. 6, no. 4, pp. 249–256, 1997. View at Google Scholar · View at Scopus
  50. J. F. Stone and A. A. Sandberg, “Sex chromosome aneuploidy and aging,” Mutation Research, vol. 338, no. 1–6, pp. 107–113, 1995. View at Publisher · View at Google Scholar · View at Scopus
  51. M. A. Abruzzo, M. Mayer, and P. A. Jacobs, “Aging and aneuploidy: evidence for the preferential involvement of the inactive X chromosome,” Cytogenetics and Cell Genetics, vol. 39, no. 4, pp. 275–278, 1985. View at Google Scholar · View at Scopus
  52. J. D. Tucker, J. Nath, and J. C. Hando, “Activation status of the X chromosome in human micronucleated lymphocytes,” Human Genetics, vol. 97, no. 4, pp. 471–475, 1996. View at Publisher · View at Google Scholar · View at Scopus
  53. L. Pal and N. Santoro, “Premature ovarian failure (POF): discordance between somatic and reproductive aging,” Ageing Research Reviews, vol. 1, no. 3, pp. 413–423, 2002. View at Publisher · View at Google Scholar · View at Scopus
  54. A. L. Villanueva and R. W. Rebar, “Triple-X syndrome and premature ovarian failure,” Obstetrics and Gynecology, vol. 62, supplement 3, pp. 70s–73s, 1983. View at Google Scholar · View at Scopus
  55. A. J. L. Brambila-Tapia, H. Rivera, H. García-Castillo, M. G. Domínguez-Quezada, and I. P. Dávalos-Rodríguez, “47,XXX/45,X/46,XX mosaicism in a patient with Turner phenotype and spontaneous puberal development,” Fertility and Sterility, vol. 92, no. 5, pp. 1747.e5–1747.e7, 2009. View at Publisher · View at Google Scholar · View at Scopus
  56. M. Guttenbach, R. Schakowski, and M. Schmid, “Aneuploidy and ageing: sex chromosome exclusion into micronuclei,” Human Genetics, vol. 94, no. 3, pp. 295–298, 1994. View at Google Scholar · View at Scopus
  57. J. H. Ford and J. A. Russel, “Differences in the error mechanisms affecting sex and autosomal chromosomes in women of different ages within the reproductive age group,” American Journal of Human Genetics, vol. 37, no. 5, pp. 973–983, 1985. View at Google Scholar · View at Scopus
  58. P. H. Fitzgerald, “A mechanism of X chromosome aneuploidy in lymphocytes of aging women,” Humangenetik, vol. 28, no. 2, pp. 153–158, 1975. View at Google Scholar · View at Scopus
  59. P. S. Burgoyne and T. G. Baker, “Meiotic pairing and gametogenic failure,” Symposia of the Society for Experimental Biology, vol. 38, pp. 349–362, 1984. View at Google Scholar · View at Scopus