An opportune life: 50 years in human cytogenetics

Annual Review of Genomics and Human Genetics

Volumn 15, Issue , 2014, Pages 29-46

  Jacobs, Patricia A ^a  

^a SALISBURY NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

Chromosomes; Down syndrome; fragile X; hydatidiform moles; Klinefelter syndrome; morbidity and mortality in the chromosomally abnormal; mosaicism; population studies; sex determination; spontaneous abortions; structural chromosome abnormalities; XYY males

Indexed keywords

ARTICLE; CELL DIVISION; CHROMOSOME ABERRATION; CLINICAL GENETICS; CYTOGENETICS; DOWN SYNDROME; FRAGILE X SYNDROME; HUMAN; HUMAN GENETICS; MEDICAL EDUCATION; MEDICAL HISTORY; MICROSCOPY; MORBIDITY; MORTALITY; MOSAICISM; NONHUMAN; POPULATION GENETICS; SEX CHROMOSOME; SPONTANEOUS ABORTION; UNITED KINGDOM; UNITED STATES; CYTODIAGNOSIS; HISTORY; KARYOTYPING; MEDICAL GENETICS;

CHROMOSOME ABERRATIONS; CYTODIAGNOSIS; CYTOGENETICS; GENETICS, MEDICAL; HISTORY, 20TH CENTURY; HISTORY, 21ST CENTURY; HUMANS; KARYOTYPING; MICROSCOPY;

EID: 84906889815     PISSN: 15278204     EISSN: 1545293X     Source Type: Book Series    
DOI: 10.1146/annurev-genom-090413-025457     Document Type: Article

References (54)

1. Boué J, Boué A, Lazar P. 1975. Retrospective and prospective epidemiological studies of 1, 500 karyotyped spontaneous human abortions. Teratology 12:11-26
2. Bugge M, Collins A, Petersen MB, Fisher J, Brandt C, et al. 1998. Non-disjunction of chromosome 18. Hum. Mol. Genet. 7:661-69
3. Callan HG, Jacobs PA. 1957. The meiotic process inMantis religiosa L. males. J. Genet. 55:200-17
4. Carr DH. 1965. Chromosome studies in spontaneous abortions. Obstet. Gynecol. 26:308-26
5. Chiu RW, Chan KC, Geo Y, Lau VY, Zheng W, 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
6. De Gregori M, Ciccone R, Magini P, Pramparo T, Gimelli S, 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
7. Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR. 2008. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc. Natl. Acad. Sci. USA 105:16266-71
8. Ford CE, Hamerton JL. 1956. The chromosomes of man. Nature 178:1020-23
9. Ford CE, Hamerton JL. 1956. A colchicine, hypotonic citrate, squash sequence for mammalian chromosomes. Stain Technol. 31:247-51
10. Ford CE, Jacobs PA, Lajtha LG. 1958. Human somatic chromosomes. Nature 181:1565-68
11. Ford CE, Jones KW, Polani PE, De Almeida JC, Briggs JH. 1959. A sex chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome). Lancet 273:711-13
12. Ford CE, Polani PE, Briggs JH, Bishop PMF. 1959. A presumptive human XXY/XX mosaic. Nature 183:1030-32
13. Giraud F, Ayme S, Mattei JF, Mattei MG. 1976. Constitutional chromosomal breakage. Hum. Genet. 34:125-36
14. Gribble SM, Prigmore E, Burford DC, Porter KM, Ng BL, 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
15. Harvey J, Judge C, Weiner S. 1977. Familial X-linked mental retardation with an X chromosome abnormality. J. Med. Genet. 14:46-50
16. Hassold TJ, Arnovitz K, Jacobs PA, May K, Robinson D. 1991. The parental origin of the missing or additional chromosome in 45, X and 47, XXX females. Birth Defects Orig. Artic. Ser. 26:297-304
17. Hassold TJ, Hall H, Hunt P. 2007. The origin of human aneuploidy: where we have been, where we are going. Hum. Mol. Genet. 16:R203-8
18. Hassold TJ, Pettay D, Freeman SB, Grantham M, Takaesu N 1991. Molecular studies of non-disjunction in trisomy 16. J. Med. Genet. 28:159-62
19. Higgins CD, Swerdlow AJ, Schoemaker MJ, Wright AF, Jacobs PA. 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
20. Hook EB. 1973. Behavioural implications of the human XYY genotype. Science 179:139-50
21. Jacobs PA, Baikie AG, Court Brown WM, Forrest H, Roy JR, et al. 1959. Chromosomal sex in the syndrome of testicular feminization. Lancet 274:591-92
22. Jacobs PA, Baikie AG, Court Brown WM, MacGregor TN, MacLean N, Harnden DG. 1959. Evidence for the existence of the human "super-female". Lancet 274:423-25
23. Jacobs PA, Baikie AG, Court Brown WM, Strong JA. 1959. The somatic chromosomes in mongolism. Lancet 273:710-13
24. Jacobs PA, Brunton M, Melville MM, Brittain RP, McClemont WF. 1965. Aggressive behaviour, mental subnormality and the XYY male. Nature 208:1351-52
25. Jacobs PA, Hassold TJ. 1995. The origin of numerical chromosome abnormalities. In Advances in Genetics, Vol. 33, ed. JC Hall, JC Dunlap, pp. 101-33. San Diego: Academic
26. Jacobs PA, Melville M, Ratcliffe S. 1974. A cytogenetic survey of 11, 680 newborn infants. Am. Hum. Genet. 37:359-67
27. Jacobs PA, Price WH, Richmond S, Ratcliff RAW. 1971. Chromosome surveys in penal institutions and approved schools. J. Med. Genet. 8:49-58
28. Jacobs PA, Strong JA. 1959. A case of human intersexuality having a possible XXY sex-determining mechanism. Nature 183:302-3
29. Jacobs PA, Szulman AE, Funkhouser J, Matsuura JS, Wilson CC. 1982. Human triploidy: relationship between parental origin of the additional haploid complement and development of partial hydatidiform mole. Ann. Hum. Genet. 46:223-31
30. Kajii T, Ohama K. 1977. Androgenetic origin of hydatidiform mole. Nature 268:633-34
31. Lejeune J, Gautier M, Turpin R. 1959. Etudes des chromosomes somatique de neuf enfants mongoliens. C. R. Acad. Sci. 248:1721-22
32. MacLean N, Mitchell JM. 1962. A survey of sex chromosome abnormalities among 4, 514 mental defectives. Lancet 279:293-96
33. Matsuura J, Chiu D, Jacobs PA. 1984. Complete hydatidiform mole in Hawaii: an epidemiological study. Genet. Epidemiol. 1:271-84
34. Moore KL, Barr ML. 1955. Smears from the oral mucosa in the detection of chromosomal sex. Lancet 266:57
35. Moorhead PS, Nowell PC, Mellman WJ, Battips DM, Hungerford DA. 1960. Chromosome preparations of leucocytes cultured for human peripheral blood. Exp. Cell Res. 20:613-16
36. Penrose LS. 1965. Studies on mosaicism in Down's anomaly. In Mental Retardation, ed. GA Jervis, pp. 1-16. Springfield, IL: Charles C. Thomas
37. Potter H. 2008. Down's syndrome and Alzheimer's disease: two sides of the same coin. Future Neurol. 3:29-37
38. Robinson DO, Jacobs PA. 1999. The origin of the extra Y chromosome in males with a 47, XYY karyotype. Hum. Mol. Genet. 8:2205-9
39. Schoemaker MJ, Swerdlow AJ, Higgins CD, Wright AF, Jacobs PA. 2008. Cancer incidence in women with Turner syndrome in Great Britain: a national cohort study. Lancet Oncol. 9:239-46
40. Schoemaker MJ, Swerdlow AJ, Higgins CD, Wright AF, Jacobs PA. 2008. Mortality in women with Turner syndrome in Great Britain: a national cohort study. J. Clin. Endocrinol. Metab. 93:4735-42
41. Schupf N, Kapell D, Lee JH, Ottman R, Mayeux R. 1994. Increased risk of Alzheimer's disease in mothers of adults with Down's syndrome. Lancet 344:353-56
42. Sherman SL, Jacobs PA, Morton NE, Froster-Iskenius U, Howard-Peebles PN, et al. 1985. Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum. Genet. 69:289-99
43. Sibbons C, Morris JK, Crolla JA, Jacobs PA, Thomas NS. 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
44. Swerdlow AJ, Higgins CD, Schoemaker MJ, Wright AF, Jacobs PA. 2005. Mortality in patients with Klinefelter syndrome in Britain: a cohort study. J. Clin. Endocrinol. Metab. 90:6516-22
45. Swerdlow AJ, Schoemaker MJ, Higgins CD, Wright AF, Jacobs PA. 2005. Cancer incidence and mortality in patients with Klinefelter's syndrome: a cohort study. J. Nat. Cancer Inst. 97:1204-10
46. Swerdlow AJ, Schoemaker MJ, Higgins CD, Wright AF, Jacobs PA. 2005. Mortality and cancer incidence in women with extra X chromosomes: a cohort study in Britain. Hum. Genet. 118:255-60
47. Swerdlow AJ, Schoemaker MJ, Higgins CD, Wright AF, Jacobs PA. 2008. Cancer risk in patients with constitutional chromosome deletions: a nationwide British cohort study. Br. J. Cancer 98:1929-33
48. Swerdlow AJ, Schoemaker MJ, Higgins CD, Wright AF, Jacobs PA. 2008. Mortality risks in patients with constitutional autosomal chromosome deletions in Britain: a cohort study. Hum. Genet. 123:215-24
49. Thomas NS, Collins AR, Hassold TJ, Jacobs PA. 2000. A reinvestigation of non-disjunction resulting in 47, XXY males of paternal origin. Eur. J. Hum. Genet. 8:805-8
50. Thomas NS, Durkie M, Van Zyl B, Sanford R, Potts G, et al. 2006. Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man. Hum. Genet. 119:444-50
51. Thomas NS, Ennis S, Sharp AJ, Durkie M, Hassold TJ, et al. 2001. Maternal sex chromosome non-disjunction: evidence for X chromosome-specific risk ractors. Hum. Mol. Genet. 10:243-50
52. Thomas NS, Morris JK, Baptista J, Ng BL, Crolla JA, Jacobs PA. 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
53. Tjio JH, Levan A. 1956. The chromosome number of man. Hereditas 42:1-6
54. Turpin R, Lejeune J, Lafourcade J, Gautier M. 1959. Aberrations chromosomiques du maladies humaines. La polydysspondylie à 45 chromosomes. C. R. Acad. Sci. 248:3636-38