1932

Abstract

This article is one person's view of human cytogenetics over the past 50 years. The flowering of human cytogenetics led the way to the establishment of clinical genetics as one of the most important developments in medicine in the twentieth century. The article is written from the viewpoint of a scientist who never tired of analyzing the images of dividing cells on the light microscope and interpreting the wealth of information contained in them.

Loading

Article metrics loading...

/content/journals/10.1146/annurev-genom-090413-025457
2014-08-31
2024-04-26
Loading full text...

Full text loading...

/deliver/fulltext/genom/15/1/annurev-genom-090413-025457.html?itemId=/content/journals/10.1146/annurev-genom-090413-025457&mimeType=html&fmt=ahah

Literature Cited

  1. Boué J, Boué A, Lazar P. 1.  1975. Retrospective and prospective epidemiological studies of 1,500 karyotyped spontaneous human abortions. Teratology 12:11–26 [Google Scholar]
  2. Bugge M, Collins A, Petersen MB, Fisher J, Brandt C. 2.  et al. 1998. Non-disjunction of chromosome 18. Hum. Mol. Genet. 7:661–69 [Google Scholar]
  3. Callan HG, Jacobs PA. 3.  1957. The meiotic process in Mantis religiosa L. males. J. Genet. 55:200–17 [Google Scholar]
  4. Carr DH. 4.  1965. Chromosome studies in spontaneous abortions. Obstet. Gynecol. 26:308–26 [Google Scholar]
  5. Chiu RW, Chan KC, Geo Y, Lau VY, Zheng W. 5.  et al. 2008. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc. Natl. Acad. Sci. USA 105:20458–63 [Google Scholar]
  6. De Gregori M, Ciccone R, Magini P, Pramparo T, Gimelli S. 6.  et al. 2007. Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients. J. Med. Genet. 44:750–62 [Google Scholar]
  7. Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR. 7.  2008. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc. Natl. Acad. Sci. USA 105:16266–71 [Google Scholar]
  8. Ford CE, Hamerton JL. 8.  1956. The chromosomes of man. Nature 178:1020–23 [Google Scholar]
  9. Ford CE, Hamerton JL. 9.  1956. A colchicine, hypotonic citrate, squash sequence for mammalian chromosomes. Stain Technol. 31:247–51 [Google Scholar]
  10. Ford CE, Jacobs PA, Lajtha LG. 10.  1958. Human somatic chromosomes. Nature 181:1565–68 [Google Scholar]
  11. Ford CE, Jones KW, Polani PE, De Almeida JC, Briggs JH. 11.  1959. A sex chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome). Lancet 273:711–13 [Google Scholar]
  12. Ford CE, Polani PE, Briggs JH, Bishop PMF. 12.  1959. A presumptive human XXY/XX mosaic. Nature 183:1030–32 [Google Scholar]
  13. Giraud F, Ayme S, Mattei JF, Mattei MG. 13.  1976. Constitutional chromosomal breakage. Hum. Genet. 34:125–36 [Google Scholar]
  14. Gribble SM, Prigmore E, Burford DC, Porter KM, Ng BL. 14.  et al. 2005. The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes. J. Med. Genet. 42:8–16 [Google Scholar]
  15. Harvey J, Judge C, Weiner S. 15.  1977. Familial X-linked mental retardation with an X chromosome abnormality. J. Med. Genet. 14:46–50 [Google Scholar]
  16. Hassold TJ, Arnovitz K, Jacobs PA, May K, Robinson D. 16.  1991. The parental origin of the missing or additional chromosome in 45,X and 47,XXX females. 26297–304 [Google Scholar]
  17. Hassold TJ, Hall H, Hunt P. 17.  2007. The origin of human aneuploidy: where we have been, where we are going. Hum. Mol. Genet. 16:R203–8 [Google Scholar]
  18. Hassold TJ, Pettay D, Freeman SB, Grantham M, Takaesu N. 18.  1991. Molecular studies of non-disjunction in trisomy 16. J. Med. Genet. 28:159–62 [Google Scholar]
  19. Higgins CD, Swerdlow AJ, Schoemaker MJ, Wright AF, Jacobs PA. 19.  2007. On behalf of the UK clinical cytogenetics group. Mortality and cancer incidence in males with Y polysomy in Britain: a cohort study. Hum. Genet. 121:691–96 [Google Scholar]
  20. Hook EB. 20.  1973. Behavioural implications of the human XYY genotype. Science 179:139–50 [Google Scholar]
  21. Jacobs PA, Baikie AG, Court Brown WM, Forrest H, Roy JR. 21.  et al. 1959. Chromosomal sex in the syndrome of testicular feminization. Lancet 274:591–92 [Google Scholar]
  22. Jacobs PA, Baikie AG, Court Brown WM, MacGregor TN, MacLean N, Harnden DG. 22.  1959. Evidence for the existence of the human “super-female”. Lancet 274:423–25 [Google Scholar]
  23. Jacobs PA, Baikie AG, Court Brown WM, Strong JA. 23.  1959. The somatic chromosomes in mongolism. Lancet 273:710–13 [Google Scholar]
  24. Jacobs PA, Brunton M, Melville MM, Brittain RP, McClemont WF. 24.  1965. Aggressive behaviour, mental subnormality and the XYY male. Nature 208:1351–52 [Google Scholar]
  25. Jacobs PA, Hassold TJ. 25.  1995. The origin of numerical chromosome abnormalities. Advances in Genetics 33 JC Hall, JC Dunlap 101–33 San Diego: Academic [Google Scholar]
  26. Jacobs PA, Melville M, Ratcliffe S. 26.  1974. A cytogenetic survey of 11,680 newborn infants. Am. Hum. Genet. 37:359–67 [Google Scholar]
  27. Jacobs PA, Price WH, Richmond S, Ratcliff RAW. 27.  1971. Chromosome surveys in penal institutions and approved schools. J. Med. Genet. 8:49–58 [Google Scholar]
  28. Jacobs PA, Strong JA. 28.  1959. A case of human intersexuality having a possible XXY sex-determining mechanism. Nature 183:302–3 [Google Scholar]
  29. Jacobs PA, Szulman AE, Funkhouser J, Matsuura JS, Wilson CC. 29.  1982. Human triploidy: relationship between parental origin of the additional haploid complement and development of partial hydatidiform mole. Ann. Hum. Genet. 46:223–31 [Google Scholar]
  30. Kajii T, Ohama K. 30.  1977. Androgenetic origin of hydatidiform mole. Nature 268:633–34 [Google Scholar]
  31. Lejeune J, Gautier M, Turpin R. 31.  1959. Etudes des chromosomes somatique de neuf enfants mongoliens. C. R. Acad. Sci. 248:1721–22 [Google Scholar]
  32. MacLean N, Mitchell JM. 32.  1962. A survey of sex chromosome abnormalities among 4,514 mental defectives. Lancet 279:293–96 [Google Scholar]
  33. Matsuura J, Chiu D, Jacobs PA. 33.  1984. Complete hydatidiform mole in Hawaii: an epidemiological study. Genet. Epidemiol. 1:271–84 [Google Scholar]
  34. Moore KL, Barr ML. 34.  1955. Smears from the oral mucosa in the detection of chromosomal sex. Lancet 266:57 [Google Scholar]
  35. Moorhead PS, Nowell PC, Mellman WJ, Battips DM, Hungerford DA. 35.  1960. Chromosome preparations of leucocytes cultured for human peripheral blood. Exp. Cell Res. 20:613–16 [Google Scholar]
  36. Penrose LS. 36.  1965. Studies on mosaicism in Down's anomaly. Mental Retardation GA Jervis 1–16 Springfield, IL: Charles C. Thomas [Google Scholar]
  37. Potter H. 37.  2008. Down's syndrome and Alzheimer's disease: two sides of the same coin. Future Neurol. 3:29–37 [Google Scholar]
  38. Robinson DO, Jacobs PA. 38.  1999. The origin of the extra Y chromosome in males with a 47,XYY karyotype. Hum. Mol. Genet. 8:2205–9 [Google Scholar]
  39. Schoemaker MJ, Swerdlow AJ, Higgins CD, Wright AF, Jacobs PA. 39.  2008. Cancer incidence in women with Turner syndrome in Great Britain: a national cohort study. Lancet Oncol. 9:239–46 [Google Scholar]
  40. Schoemaker MJ, Swerdlow AJ, Higgins CD, Wright AF, Jacobs PA. 40.  2008. Mortality in women with Turner syndrome in Great Britain: a national cohort study. J. Clin. Endocrinol. Metab. 93:4735–42 [Google Scholar]
  41. Schupf N, Kapell D, Lee JH, Ottman R, Mayeux R. 41.  1994. Increased risk of Alzheimer's disease in mothers of adults with Down's syndrome. Lancet 344:353–56 [Google Scholar]
  42. Sherman SL, Jacobs PA, Morton NE, Froster-Iskenius U, Howard-Peebles PN. 42.  et al. 1985. Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum. Genet. 69:289–99 [Google Scholar]
  43. Sibbons C, Morris JK, Crolla JA, Jacobs PA, Thomas NS. 43.  2012. De novo deletions and duplications detected by array CGH: a study of parental origin in relation to mechanisms of formation and size of imbalance. Eur. J. Hum. Genet. 20:155–60 [Google Scholar]
  44. Swerdlow AJ, Higgins CD, Schoemaker MJ, Wright AF, Jacobs PA. 44.  2005. Mortality in patients with Klinefelter syndrome in Britain: a cohort study. J. Clin. Endocrinol. Metab. 90:6516–22 [Google Scholar]
  45. Swerdlow AJ, Schoemaker MJ, Higgins CD, Wright AF, Jacobs PA. 45.  2005. Cancer incidence and mortality in patients with Klinefelter's syndrome: a cohort study. J. Nat. Cancer Inst. 97:1204–10 [Google Scholar]
  46. Swerdlow AJ, Schoemaker MJ, Higgins CD, Wright AF, Jacobs PA. 46.  2005. Mortality and cancer incidence in women with extra X chromosomes: a cohort study in Britain. Hum. Genet. 118:255–60 [Google Scholar]
  47. Swerdlow AJ, Schoemaker MJ, Higgins CD, Wright AF, Jacobs PA. 47.  2008. Cancer risk in patients with constitutional chromosome deletions: a nationwide British cohort study. Br. J. Cancer 98:1929–33 [Google Scholar]
  48. Swerdlow AJ, Schoemaker MJ, Higgins CD, Wright AF, Jacobs PA. 48.  2008. Mortality risks in patients with constitutional autosomal chromosome deletions in Britain: a cohort study. Hum. Genet. 123:215–24 [Google Scholar]
  49. Thomas NS, Collins AR, Hassold TJ, Jacobs PA. 49.  2000. A reinvestigation of non-disjunction resulting in 47,XXY males of paternal origin. Eur. J. Hum. Genet. 8:805–8 [Google Scholar]
  50. Thomas NS, Durkie M, Van Zyl B, Sanford R, Potts G. 50.  et al. 2006. Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man. Hum. Genet. 119:444–50 [Google Scholar]
  51. Thomas NS, Ennis S, Sharp AJ, Durkie M, Hassold TJ. 51.  et al. 2001. Maternal sex chromosome non-disjunction: evidence for X chromosome-specific risk ractors. Hum. Mol. Genet. 10:243–50 [Google Scholar]
  52. Thomas NS, Morris JK, Baptista J, Ng BL, Crolla JA, Jacobs PA. 52.  2010. De novo apparently balanced translocations in man are predominantly paternal in origin and associated with a significant increase in paternal age. J. Med. Genet. 47:112–15 [Google Scholar]
  53. Tjio JH, Levan A. 53.  1956. The chromosome number of man. Hereditas 42:1–6 [Google Scholar]
  54. Turpin R, Lejeune J, Lafourcade J, Gautier M. 54.  1959. Aberrations chromosomiques du maladies humaines. La polydysspondylie à 45 chromosomes. C. R. Acad. Sci. 248:3636–38 [Google Scholar]
/content/journals/10.1146/annurev-genom-090413-025457
Loading
  • Article Type: Review Article
This is a required field
Please enter a valid email address
Approval was a Success
Invalid data
An Error Occurred
Approval was partially successful, following selected items could not be processed due to error