This article describes a fragment of history on the growing impact of genetics on the practice of medicine over 50 years, as experienced by a medical geneticist who helped to provide services to patients at risk of genetic disorders. It is a personal account influenced by a fascination with chromosomes that has drawn him into many studies, including sex determination, gene discovery, fetal diagnosis, phylogenomics, and karyotype evolution.


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Literature Cited

  1. Affara NA, Ferguson-Smith MA, Magenis RE, Tolmie JL, Boyd E. 1.  et al. 1987. Mapping the testis determinants by an analysis of Y specific sequences in males with apparent XX and XO karyotypes and females with XY karyotypes. Nucleic Acids Res. 15:7325–42 [Google Scholar]
  2. Aitken DA, Ferguson-Smith MA. 2.  1978. The exclusion map up-dated. Cytogenet. Cell Genet. 22:613–17 [Google Scholar]
  3. Allan LD, Donald I, Ferguson-Smith MA, Sweet EM, Gibson AAM. 3.  1973. Amniotic-fluid alpha-fetoprotein in the antenatal diagnosis of spina bifida. Lancet 302:522–25 [Google Scholar]
  4. Bailey DMD, Affara NA, Ferguson-Smith MA. 4.  1992. The X-Y homologous gene amelogenin maps to the short arms of both the X and Y chromosome and is highly conserved in primates. Genomics 14:203–5 [Google Scholar]
  5. Balmus G, Trifonov VA, Biltueva LA, O'Brien PCM, Alkalaeva ES. 5.  et al. 2007. Cross-species painting among camel, cattle, pig and human: further insights into the putative Cetartiodactyla ancestral karyotype. Chromosome Res. 15:499–514 [Google Scholar]
  6. Barr ML, Bertram EG. 6.  1949. A morphological distinction between neurones of the male and female, and the behaviour of the nucleolar satellite during accelerated nuclear protein synthesis. Nature 163:676–77 [Google Scholar]
  7. Bose S, Morgan LJ, Booth DR, Goudie DR, Ferguson-Smith MA, Richards FM. 7.  2006. The elusive multiple self-healing squamous epithelioma (MSSE) gene: further mapping, analysis of candidates, and loss of heterozygosity. Oncogene 25:806–12 [Google Scholar]
  8. Boyer SH, Ferguson-Smith MA, Grumbach MM. 8.  1962. The lack of influence of parental age and birth order in the aetiology of nuclear-sex chromatin-negative Turner's syndrome. Ann. Hum. Genet. 25:215–25 [Google Scholar]
  9. Bridges CB.9.  1932. The genetics of sex in Drosophila. Sex and Internal Secretion53–93 London: Bailliere [Google Scholar]
  10. Burkin DJ, Yang F, Broad TD, Wienberg J, Hill DF, Ferguson-Smith MA. 10.  1997. Use of the Indian muntjac idiogram to align conserved chromosomal segments in sheep and human genomes by chromosome painting. Genomics 46:143–47 [Google Scholar]
  11. Carter CO, Hamerton JL, Polani PE, Gunalp A, Weller SDV. 11.  1960. Chromosome translocation as a cause of familial mongolism. Lancet 276:678–80 [Google Scholar]
  12. Carter NP, Ferguson-Smith MA, Perryman MT, Telenius H, Pelmear AH. 12.  et al. 1992. Reverse chromosome painting: a method for the rapid analysis of aberrant chromosomes in clinical cytogenetics. J. Med. Genet. 29:299–307 [Google Scholar]
  13. Carter NP, Ferguson-Smith ME, Affara NA, Briggs H, Ferguson-Smith MA. 13.  1990. Study of X chromosome abnormality in XX males using bivariate flow karyotype analysis and flow sorted dot blots. Cytometry 11:202–7 [Google Scholar]
  14. Chen H, Griffin DK, Jestice K, Hackett G, Cooper J, Ferguson-Smith MA. 14.  1998. Evaluating the culture of fetal erythroblasts from maternal blood for non-invasive prenatal diagnosis. Prenat. Diagn. 18:883–92 [Google Scholar]
  15. Childs B, Valle D. 15.  Genetics, biology and disease; 2000. Annu. Rev. Genomics Hum. Genet. 1:1–19 [Google Scholar]
  16. Coleman AE, Schröck E, Weaver Z, du Manoir S, Yang F. 16.  et al. 1997. Previously hidden chromosome aberrations in T(12;15)-positive BALB/c plasmacytomas uncovered by multicolor spectral karyotyping. Cancer Res. 57:4585–92 [Google Scholar]
  17. Connor JM, Pirrit LA, Yates JR, Fryer AE, Ferguson-Smith MA. 17.  1987. Linkage of the tuberous sclerosis locus to a DNA polymorphism detected by v-abl. J. Med. Genet. 24:544–46 [Google Scholar]
  18. Cuckle HS, Malone FD, Wright D, Porter TF, Nyberg DA. 18.  et al. 2008. Contingent screening for Down syndrome: results from the FaSTER trial. Prenat. Diagn. 28:89–94 [Google Scholar]
  19. D'Alessandro M, Coats SE, Morley SM, Mackintosh L, Tessari G. 19.  et al. 2007. Multiple self-healing squamous epithelioma in different ethnic groups: more than a founder mutation disorder?. J. Invest. Dermatol. 127:233644 [Google Scholar]
  20. Davies KE, Young BD, Elles RG, Hill ME, Williamson RW. 20.  1981. Cloning of a representative genomic library of the human X chromosome after sorting by flow cytometry. Nature 293:374–76 [Google Scholar]
  21. de Oliviera EHC, de Moura SP, dos Anjos LJS, Nagamachi CV, Pieczarka JC. 21.  et al. 2008. Comparative chromosome painting between chicken and spectacled owl (Pulsatrix perspicillata): implications for chromosomal evolution in the Strigidae (Aves, Strigiformes). Cytogenet. Genome Res. 122:157–62 [Google Scholar]
  22. de Oliviera EHC, Tagliarini MM, Rissino JD, Pieczarka JC, Nagamachi CV. 22.  et al. 2010. Reciprocal chromosome painting between white hawk (Leucopternis albicollis) and chicken reveals extensive fusions and fissions during karyotype evolution of Accipitridae (Aves, Falconiformes). Chromosome Res. 18:349–55 [Google Scholar]
  23. Divane A, Carter NP, Spathas DH, Ferguson-Smith MA. 23.  1994. Rapid prenatal diagnosis of aneuploidy from uncultured amniotic fluid cells using five-colour fluorescence in situ hybridisation. Prenat. Diagn. 14:1061–69 [Google Scholar]
  24. Dobigny G, Yang F, O'Brien PCM, Volobouev V, Kovacs A. 24.  et al. 2005. Low rate of genomic re-patterning in Xenarthra inferred from chromosome painting data. Chromosome Res. 13:651–63 [Google Scholar]
  25. Donahue RP, Bias WB, Renwick JH, McKusick VA. 25.  1968. Probable assignment of the Duffy blood group locus to chromosome 1 in man. Proc. Natl. Acad. Sci. USA 61:949–55 [Google Scholar]
  26. Edwards JH, Harnden DG, Cameron AH, Crosse VM, Wolfe OH. 26.  1960. A new trisomic syndrome. Lancet 275:787–90 [Google Scholar]
  27. Ferguson-Smith J.27.  1934. A case of multiple primary squamous-celled carcinomata in a young man, with spontaneous healing. Br. J. Dermatol. 46:267–72 [Google Scholar]
  28. Ferguson-Smith MA.28.  1958. Chromatin-positive Klinefelter's syndrome (primary micro-orchidism) in a mental deficiency hospital. Lancet 271:928–31 [Google Scholar]
  29. Ferguson-Smith MA.29.  1962. Human cytogenetics and sex determination. Expanding Goals in Genetics and Psychiatry FJ Kallman 81–97 New York: Grune & Stratton [Google Scholar]
  30. Ferguson-Smith MA.30.  1964. The sites of nucleolus formation in human pachytene chromosomes. Cytogenetics 3:124–34 [Google Scholar]
  31. Ferguson-Smith MA.31.  1965. Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations. J. Med. Genet. 2:142–55 [Google Scholar]
  32. Ferguson-Smith MA.32.  1966. Sex chromatin, Klinefelter's syndrome and mental deficiency. The Sex Chromatin KL Moore 277–315 Philadelphia: Saunders [Google Scholar]
  33. Ferguson-Smith MA.33.  1966. X-Y chromosomal interchange in the ætiology of true hermaphroditism and of XX Klinefelter's syndrome. Lancet 288:475–76 [Google Scholar]
  34. Ferguson-Smith MA.34.  1972. Human chromosomes in meiosis. Hum. Genet. Proc. 4th Int. Congr. Hum. Genet., Paris195–211 Amsterdam: Excerpta Medica [Google Scholar]
  35. Ferguson-Smith MA.35.  1983. The reduction of anencephalic and spina bifida births by maternal serum alphafetoprotein screening. Br. Med. Bull. 39:365–72 [Google Scholar]
  36. Ferguson-Smith MA.36.  1988. Progress in the molecular cytogenetics of man. Philos. Trans. R. Soc. Lond. B 319:239–48 [Google Scholar]
  37. Ferguson-Smith MA.37.  1998. Gender verification and the place of XY females in sport. Oxford Textbook of Sports Medicine M Harries, C Williams, WD Stanish, LJ Micheli 355–65 Oxford: Oxford Univ. Press, 2nd. ed. [Google Scholar]
  38. Ferguson-Smith MA.38.  2002. BSE: public policy and the uncertainties of science. Risk, Democratic Citizenship and Public Policy A Weale 85–90 Oxford: Oxford Univ. Press [Google Scholar]
  39. Ferguson-Smith MA.39.  2003. Continuing anxiety about BSE. Vet. Rec. 153:723 [Google Scholar]
  40. Ferguson-Smith MA.40.  2009. It is 50 years since the discovery of the male determining role of the Y chromosome!. Sex Dev. 3:233–36 [Google Scholar]
  41. Ferguson-Smith MA, Affara NA, Magenis RE. 41.  1987. Ordering of Y-specific sequences by deletion mapping and analysis of X-Y interchange males and females. Development 101:Suppl.41–50 [Google Scholar]
  42. Ferguson-Smith MA, Aitken DA, Turleau C, de Grouchy J. 42.  1976. Localisation of the human ABO:NP1:AK1 linkage group by regional assignment of AK1 to 9q34. Hum. Genet. 34:35–43 [Google Scholar]
  43. Ferguson-Smith MA, Ferguson-Smith ME, Ellis PM, Dickson M. 43.  1962. The sites and relative frequencies of secondary constrictions in human somatic chromosomes. Cytogenetics 1:325–43 [Google Scholar]
  44. Ferguson-Smith MA, Ferris EA. 44.  1991. Gender verification in sport: the need for change?. Br. J. Sports Med. 25:17–20 [Google Scholar]
  45. Ferguson-Smith MA, Handmaker SD. 45.  1961. Observations on the satellited human chromosomes. Lancet 277:638–40 [Google Scholar]
  46. Ferguson-Smith MA, Johnston AW, Handmaker SD. 46.  1960. Primary amentia and micro-orchidism associated with an XXXY sex chromosome constitution. Lancet 276:184–87 [Google Scholar]
  47. Ferguson-Smith MA, Lennox B, Mack WS, Stewart JSS. 47.  1957. Klinefelter's syndrome: frequency and testicular morphology in relation to nuclear sex. Lancet 270:167–69 [Google Scholar]
  48. Ferguson-Smith MA, Mack WS, Ellis PM, Dickson M, Sanger R, Race RR. 48.  1964. Parental age and the source of the X chromosomes in XXY Klinefelter's syndrome. Lancet 283:46 [Google Scholar]
  49. Ferguson-Smith MA, Munro IB. 49.  1958. Spermatogenesis in the presence of female nuclear sex. Scott. Med. J. 3:39–42 [Google Scholar]
  50. Ferguson-Smith MA, Newman BF, Ellis PM, Thomson DMG, Riley ID. 50.  1973. Assignment by deletion of human red cell acid phosphatase gene locus to the short arm of chromosome 2. Nat. New Biol. 243:271–74 [Google Scholar]
  51. Ferguson-Smith MA, Page BM. 51.  1973. Pachytene analysis in a human reciprocal (10;11) translocation. J. Med. Genet. 10:282–87 [Google Scholar]
  52. Ferguson-Smith MA, Richt JA. 52.  2009. Rare BSE mutation raises concern over risks to public health. Nature 457:1079 [Google Scholar]
  53. Ferguson-Smith MA, Trifonov V. 53.  2007. Mammalian karyotype evolution. Nat. Rev. Genet. 8:950–62 [Google Scholar]
  54. Ferguson-Smith MA, Wallace DC, James ZH, Renwick JH. 54.  1971. Multiple self-healing squamous epithelioma. Birth Defects Orig. Artic. Ser. 7:8157–63 [Google Scholar]
  55. Ferguson-Smith MA, Yates JRW. 55.  1984. Maternal age specific rates for chromosome aberrations and factors influencing them: report of a collaborative European study on 52,965 amniocenteses. Prenat. Diagn. 4:Spec. Issue5–44 [Google Scholar]
  56. Ferguson-Smith ME, Ferguson-Smith MA, Nevin NC, Stone M. 56.  1971. Chromosome analysis before birth and its value in genetic counselling. Br. Med. J. 4:69–74 [Google Scholar]
  57. Ford CE, Jacobs PA, Lajtha LG. 57.  1958. Human somatic chromosomes. Nature 181:1565–68 [Google Scholar]
  58. Ford CE, Jones KW, Polani PE, de Almeida JC, Briggs JH. 58.  1959. A sex chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome). Lancet 273:71113 [Google Scholar]
  59. Ford CE, Polani PE, Briggs JH, Bishop PMF. 59.  1959. A presumptive XXY/XX mosaic. Nature 183:1030–32 [Google Scholar]
  60. German JL.60.  1962. DNA synthesis in human chromosomes. Trans. N.Y. Acad. Sci. 24:395–407 [Google Scholar]
  61. Giovannotti M, Caputo V, O'Brien PCM, Lovell FL, Trifonov V. 61.  et al. 2010. Skinks (Reptilia:Scincidae) have highly conserved karyotypes as revealed by chromosome painting. Cytogenet. Genome Res. 127:224–31 [Google Scholar]
  62. Glas R, Graves JAM, Toder R, Ferguson-Smith MA, O'Brien PCM. 62.  1999. Cross-species chromosome painting between human and marsupial demonstrates the ancient region of the mammalian X. Mamm. Genome 10:1115–16 [Google Scholar]
  63. Goudie DR, D'Alessandro M, Merriman B, Lee H, Szeverenyi I. 63.  et al. 2011. Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in the TGFBR1 gene. Nat. Genet. 43:365–69 [Google Scholar]
  64. Goudie DR, Yuille MAR, Leversha MA, Furlong RA, Carter NP. 64.  et al. 1993. Multiple self-healing squamous epithelioma (ESSI) mapped to 9q22-q31 in families with common ancestry. Nat. Genet. 3:16569 [Google Scholar]
  65. Graphodatsky AS, Yang F, Perelman PL, O'Brien PCM, Serdukova NA. 65.  et al. 2002. Comparative molecular cytogenetic studies in the order Carnivora: mapping chromosomal rearrangements onto the phylogenetic tree. Cytogenet. Genome Res. 96:137–45 [Google Scholar]
  66. Gray JW, Carrano AV, Steinmetz LL, van Dilla MA, Moore DH. 66.  et al. 1975. Chromosome measurement and sorting by flow systems. Proc. Natl. Acad. Sci. USA 72:1231–34 [Google Scholar]
  67. Griffin DK, Haberman F, Masabanda J, O'Brien PCM, Bagga M. 67.  et al. 1999. Micro- and macrochromosome paints generated by flow cytometry and microdissection: tools for mapping the chicken genome. Cytogenet. Cell Genet. 87:278–81 [Google Scholar]
  68. Grützner F, Rens W, Tsend-Ayush E, El-Mogharbel N, O'Brien PCM. 68.  et al. 2004. In the platypus a meiotic chain of ten sex chromosomes shares genes with the bird Z and mammal X chromosomes. Nature 432:913–17 [Google Scholar]
  69. Harris P, Boyd E, Ferguson-Smith MA. 69.  1985. Optimising human chromosome separation for the production of chromosome-specific DNA libraries by flow sorting. Hum. Genet. 70:59–65 [Google Scholar]
  70. Harris P, Boyd E, Young BD, Ferguson-Smith MA. 70.  1986. Determination of the DNA content of human chromosomes by flow cytometry. Cytogenet. Cell Genet. 41:14–21 [Google Scholar]
  71. Harris P, Cooke A, Boyd E, Young BD, Ferguson-Smith MA. 71.  1987. The potential of family flow karyotyping for the detection of chromosome abnormalities. Hum. Genet. 76:129–33 [Google Scholar]
  72. Harris RM, Carter NP, Griffiths B, Goudie DG, Hampson RM. 72.  et al. 1993. Physical mapping within the tuberous sclerosis linkage group in region 9q32–34. Genomics 15:265–74 [Google Scholar]
  73. Harrison CJ, Gibbons B, Yang F, Butler T, Cheung KL. 73.  et al. 2000. Multiplex fluorescence in situ hybridisation and cross-species colour banding of a case of chronic myeloid leukemia in blastic crisis with a complex Philadelphia translocation. Cancer Genet. Cytogenet. 116:105–10 [Google Scholar]
  74. Henderson AS, Warburton D, Atwood KC. 74.  1972. Location of rDNA in the human chromosome complement. Proc. Natl. Acad. Sci. USA 69:3394–98 [Google Scholar]
  75. Int. Hum. Genome Seq. Consort 2004. Finishing the euchromatic sequence of the human genome. Nature 431:931–45 [Google Scholar]
  76. Jacobs PA, Baikie AG, Court Brown WM, MacGregor TN, Maclean N, Harnden DG. 76.  1959. Evidence for the existence of the human “super female.”. Lancet 274:423–25 [Google Scholar]
  77. Jacobs PA, Strong JA. 77.  1959. A case of human intersexuality having a possible XXY sex determining mechanism. Nature 183:3023 [Google Scholar]
  78. Kasai F, Garcia C, Arruga MV, Ferguson-Smith MA. 78.  2003. Chromosome homology between chicken (Gallus gallus domesticus) and the red-legged partridge (Alectoris rufa): evidence of the occurrence of a neocentromere during evolution. Cytogenet. Genome Res. 102:326–30 [Google Scholar]
  79. Kasai F, O'Brien PCM, Martin S, Ferguson-Smith MA. 79.  2003. Identification of the homologue of chicken Z chromosome in turtle and crocodile. Ann. Genet. 46:89 [Google Scholar]
  80. Kulemzina AI, Trifonov VA, Perelman PL, Rubtsova NV, Volobuev V. 80.  et al. 2009. Cross-species chromosome painting in Cetartiodactyla: reconstructing the karyotype evolution in key phylogenetic lineages. Chromosome Res. 17:419–36 [Google Scholar]
  81. Latif F, Tory K, Gnarra J, Yao M, Du FM. 81.  et al. 1993. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science 260:1317–20 [Google Scholar]
  82. Lejeune J, Gautier M, Turpin R. 82.  1959. Les chromosomes humains en culture de tissus. C. R. Acad. Sci. Paris 248:602–3 [Google Scholar]
  83. Liyanage M, Coleman A, du Manoir S, Veldman T, McCormack S. 83.  et al. 1996. Multicolour spectral karyotyping of mouse chromosomes. Nat. Genet. 14:312–15 [Google Scholar]
  84. Lo YMD, Corbetta N, Chamberlain PF, Rai V, Sargent IL. 84.  et al. 1997. Presence of fetal DNA in maternal plasma and serum. Lancet 350:485–87 [Google Scholar]
  85. Lo YMD, Tsui NBY, Chiu RWK, Lau TK, Leung TN. 85.  et al. 2007. Plasma placental RNA allelic ratio permits non-invasive prenatal chromosomal aneuploidy detection. Nat. Med. 13:218–23 [Google Scholar]
  86. Lyon MF. 86.  1961. Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature 190:372–73 [Google Scholar]
  87. Malcolm S, Barton P, Murphy CST, Ferguson-Smith MA. 87.  1981. Chromosomal localisation of a single copy gene by in situ hybridisation: human beta-globin genes on the short arm of chromosome 11. Ann. Hum. Genet. 45:135–41 [Google Scholar]
  88. Malcolm S, Barton P, Murphy C, Ferguson-Smith MA, Bentley DL, Rabbitts TH. 88.  1982. Localization of human immunoglobulin kappa light chain variable region genes to the short arm of chromosome 2 by in situ hybridization. Proc. Natl. Acad. Sci. USA 79:4957–61 [Google Scholar]
  89. Masabanda JS, Burt DW, O'Brien PCM, Vignal A, Fillon V. 89.  et al. 2004. Molecular cytogenetic definition of the chicken genome: the first complete avian karyotype. Genetics 166:1367–73 [Google Scholar]
  90. McKusick VA.90.  2006. A 60-year tale of spots, maps, and genes. Annu. Rev. Genomics Hum. Genet. 7:1–27 [Google Scholar]
  91. McVey JH, Michaelides K, Hansen LP, Ferguson-Smith MA, Tilghman S. 91.  et al. 1993. A G–A substitution in an HNFI binding site in the human α-fetoprotein gene is associated with hereditary persistence of α-fetoprotein (HPAFP). Hum. Mol. Genet. 2:379–84 [Google Scholar]
  92. Merkatz IR, Nitowsky HM, Macri JN, Johnson WE. 92.  1984. An association between low maternal serum alphafetoprotein and fetal chromosomal abnormalities. Am. J. Obstet. Gynecol. 148:886–94 [Google Scholar]
  93. Moore KL, Barr ML. 93.  1955. Smears from the oral mucosa in the detection of chromosomal sex. Lancet 266:57–58 [Google Scholar]
  94. Moorhead P, Nowell P, Mellman W, Battips D, Hungerford D. 94.  1960. Chromosome preparations of leukocytes cultured from human peripheral blood. Exp. Cell Res. 20:613–16 [Google Scholar]
  95. Morris JS, Carter NP, Ferguson-Smith MA, Edwards PAW. 95.  1997. Cytogenetic analysis of three breast carcinoma cell lines using reverse chromosome painting. Genes Chromosomes Cancer 20:120–39 [Google Scholar]
  96. Müller S, O'Brien PCM, Ferguson-Smith MA, Wienberg J. 96.  1998. Cross species colour segmenting: a novel tool in human karyotype analysis. Cytometry 33:445–52 [Google Scholar]
  97. Nagamachi CY, Pieczarka JC, Milhoem SSR, O'Brien PCM, de Sousa ACP, Ferguson-Smith MA. 97.  2010. Multiple rearrangements in cryptic species of electric knifefish, Gymnotus carapo (Gymnotidae, Gymnotiformes) revealed by chromosome painting. BMC Genet. 11:28 [Google Scholar]
  98. Nash WG, Wienberg J, Ferguson-Smith MA, Menninger JC, O'Brien SJ. 98.  1998. Comparative genomics: tracking chromosome evolution in the family Ursidae using reciprocal chromosome painting. Cytogenet. Cell Genet. 83:182–92 [Google Scholar]
  99. Nie W, O'Brien PCM, Ng BL, Fu B, Volobouev V. 99.  et al. 2009. Avian comparative genomics: reciprocal chromosome painting between domestic chicken (Gallus gallus) and the stone curlew (Burhinus oedicnemus, Charadriiformes)—an atypical species with low diploid number. Chromosome Res. 17:99–113 [Google Scholar]
  100. Nie W, Wang J, O'Brien PCM, Fu B, Ying T. 100.  et al. 2002. The genome phylogeny of domestic cat, red panda and five mustelid species revealed by comparative chromosome painting and G-banding. Chromosome Res. 10:209–22 [Google Scholar]
  101. Ohno S, Kaplan WD, Kinosita R. 101.  1959. Formation of the sex chromatin by a single X-chromosome in liver cells of Rattus norvegicus. Exper. Cell Res. 18:415–18 [Google Scholar]
  102. Patau K, Smith DW, Therman E, Inhorn SL, Wagner HP. 102.  1960. Multiple congenital anomaly caused by an extra autosome. Lancet 275:790–93 [Google Scholar]
  103. Penrose LS, Ellis JR, Delhanty JDA. 103.  1960. Chromosomal translocations in mongolism and in normal relatives. Lancet 276:409–10 [Google Scholar]
  104. Phillips N, Bridgeman J, Ferguson-Smith MA. 104.  2000. Report, evidence and supporting papers of the Inquiry into the emergence and identification of bovine spongiform encephalopathy (BSE) and variant Creutzfeldt-Jacob disease (vCJD) and the action taken to it up to 20 March 1996. Station. Off. 887 London: [Google Scholar]
  105. Pieczarka JC, Nagamachi CY, O'Brien PCM, Yang F, Rens W. 105.  et al. 2005. Reciprocal chromosome painting between two South American bats: Carollia brevicauda and Phyllostomus hastatus (Phyllostomidae, Chiroptera). Chromosome Res. 13:339–47 [Google Scholar]
  106. Pokorna M, Giovannotti M, Kratochvil L, Kasai F, Trifonov V. 106.  et al. 2011. Strong conservation of the bird Z chromosome in reptilian genomes is revealed by comparative painting despite 275 My divergence. Chromosoma In press
  107. Polani PE, Bishop PMF, Lennox B, Ferguson-Smith MA, Stewart JSS, Prader A. 107.  1958. Colour vision studies and the X-chromosome constitution of patients with Klinefelter's syndrome. Nature 182:1092–93 [Google Scholar]
  108. Polani PE, Briggs JH, Ford CE, Clarke CM, Berg JM. 108.  1960. A mongol girl with 46 chromosomes. Lancet 275:721–24 [Google Scholar]
  109. Polani PE, Hunter JF, Lennox B. 109.  1954. Chromosomal sex in Turner's syndrome with coarctation of the aorta. Lancet 264:120–21 [Google Scholar]
  110. Raudseppt T, Houck ML, O'Brien PCM, Ferguson-Smith MA, Ryder OA, Chowdhary BP. 110.  2002. Cytogenetic analysis of California condor (Gymnogyps californianus) chromosomes: comparison with chicken (Gallus gallus) macrochromosomes. Cytogenet. Genome Res. 98:54–60 [Google Scholar]
  111. Rens W, Grützner F, O'Brien PCM, Fairclough H, Graves JAM, Ferguson-Smith MA. 111.  2004. Resolution and evolution of the duck-billed platypus karyotype with an X1Y1X2Y2X3Y3X4Y4X5Y5 male sex chromosome constitution. Proc. Natl. Acad. Sci. USA 101:16257–61 [Google Scholar]
  112. Rens W, O'Brien PCM, Grützner F, Clarke O, Graphodatskaya D. 112.  et al. 2007. The multiple sex chromosomes of platypus and echidna are not completely identical and several share homology with the avian Z. Genome Biol. 8:R243 [Google Scholar]
  113. Rens W, O'Brien PCM, Yang F, Graves JAM, Ferguson-Smith MA. 113.  1999. Karyotype relationships between four distantly related marsupials revealed by chromosome painting. Chromosome Res. 7:461–74 [Google Scholar]
  114. Rens W, O'Brien PCM, Yang F, Solanky N, Perelman P. 114.  et al. 2001. Karyotype relationships between distantly related marsupials from South America and Australia. Chromosome Res. 9:301–8 [Google Scholar]
  115. Richards FM, Goudie DR, Cooper WN, Jene Q, Barroso I. 115.  et al. 1997. Mapping the multiple self-healing squamous epithelioma (MSSE) gene and investigation of xeroderma pigmentosum group A (XPA) and PATCHED (PTCH) as candidate genes. Hum. Genet. 101:317–22 [Google Scholar]
  116. Richt JA, Hall SM. 116.  2008. BSE case associated with prion protein gene mutation. PLoS Pathog. 4:e1000156 [Google Scholar]
  117. Robinson TJ, Fu B, Ferguson-Smith MA, Yang F. 117.  2004. Cross-species chromosome painting in the golden mole and elephant shrew: support for the mammalian clades Afrotheria and Afroinsectiphillia but not Afroinsectivora. Proc. R. Soc. Lond. B 271:1477–84 [Google Scholar]
  118. Sargan DR, Yang F, Squire M, Milne BS, O'Brien PCM, Ferguson-Smith MA. 118.  2000. Use of flow sorted canine chromosomes in the assignment of canine linkage, radiation hybrid, and syntenic groups to chromosomes: refinement and verification of the comparative chromosome map for dog and human. Genomics 69:182–95 [Google Scholar]
  119. Sargent CA, Affara NA, Bentley E, Pelmear A, Bailey DMD. 119.  et al. 1993. Cloning of the X-linked glycerol kinase deficiency gene and its identification by sequence to the Bacillus subtilis homologue. Hum. Mol. Genet. 2:97–106 [Google Scholar]
  120. Schröck E, du Manoir S, Veldman T, Schoell B, Wienberg J. 120.  et al. 1996. Multicolor spectral karyotyping of human chromosomes. Science 273:494–97 [Google Scholar]
  121. Seabright M. 121.  1971. A rapid banding technique for human chromosomes. Lancet 298:971–72 [Google Scholar]
  122. Shetty S, Griffin DK, Graves JAM. 122.  1999. Comparative painting reveals strong homology over 80 million years of bird evolution. Chromosome Res. 7:289–95 [Google Scholar]
  123. Simpson E, Chandler P, McLaren A, Goulmy E, Disteche CM. 123.  et al. 1987. Mapping the H-Y gene. Development 101:Suppl.157–61 [Google Scholar]
  124. Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths BL. 124.  et al. 1990. A gene from the human sex determining region encodes a protein with homology to a conserved DNA binding motif. Nature 346:240–44 [Google Scholar]
  125. Telenius H, Pelmear AH, Tunnacliffe A, Carter NP, Behmel A. 125.  et al. 1992. Cytogenetic analysis by chromosome painting using DOP-PCR amplified flow-sorted chromosomes. Genes Chromosomes Cancer 4:257–63 [Google Scholar]
  126. Trifonov VA, Stanyon R, Nesterenko AI, Fu B, Perelman PL. 126.  et al. 2008. Multidirectional cross-species painting illuminates the history of karyotype evolution in Perissodactyla. Chromosome Res. 16:89–107 [Google Scholar]
  127. Ventura K, O'Brien PCM, Yonenaga-Yassuda Y, Ferguson-Smith MA. 127.  2009. Chromosome homologies of the highly rearranged karyotypes of four Akodon species (Rodentia, Cricetidae) resolved by reciprocal chromosome painting: the evolution of the lowest diploid number in rodents. Chromosome Res. 17:1063–78 [Google Scholar]
  128. Walkanowska J, Conte FA, Grumbach MM. 128.  1969. Practical and theoretical implications of maternal/fetal lymphocyte transfer. Lancet 293:1119–22 [Google Scholar]
  129. Warren WC, Hillier LW, Graves JAM, Birney E, Ponting CP. 129.  et al. 2008. Genome analysis of the platypus reveals unique signatures of evolution. Nature 453:175–83 [Google Scholar]
  130. Weiss M, Green H. 130.  1967. Human-mouse hybrid cell lines containing partial complements of human chromosomes and functioning human genes. Proc. Natl. Acad. Sci. USA 58:1104–11 [Google Scholar]
  131. Wienberg J, Jauch A, Stanyon R, Cremer T. 131.  1990. Molecular cytotaxonomy of primates by chromosomal in situ suppression hybridization. Genomics 8:34750 [Google Scholar]
  132. Wilkins L, Grumbach MM, van Wyk JJ. 132.  1954. Chromosomal sex in ovarian agenesis. J. Clin. Endocrinol. Metab. 14:1270–71 [Google Scholar]
  133. Winsor EJT, Palmer CT, Ellis PM, Hunter JLP, Ferguson-Smith MA. 133.  1978. Meiotic analysis of a pericentric inversion, inv(7)(p22q32), in the father of a child with a duplication-deletion of chromosome 7. Cytogenet. Cell Genet. 20:169–84 [Google Scholar]
  134. Yang F, Alkalaeva EZ, Perelman PL, Pardini AT, Harrison WR. 134.  et al. 2003. Reciprocal chromosome painting among human, aardvark, and elephant (superorder Afrotheria) reveals the likely eutherian ancestral karyotype. Proc. Natl. Acad. Sci. USA 100:1062–66 [Google Scholar]
  135. Yang F, Carter NP, Shi L, Ferguson-Smith MA. 135.  1995. A comparative study of karyotypes of muntjacs by chromosome painting. Chromosoma 103:642–52 [Google Scholar]
  136. Yang F, Milne B, Schelling C, Dolf G, Schläpper J. 136.  et al. 2000. Chromosome identification and assignment of DNA clones in the dog using a red fox and dog comparative map. Chromosome Res. 8:93–100 [Google Scholar]
  137. Yang F, O'Brien PCM, Ferguson-Smith MA. 137.  2000. Comparative chromosome map of the laboratory mouse and Chinese hamster defined by reciprocal chromosome painting. Chromosome Res. 8:219–27 [Google Scholar]
  138. Yang F, O'Brien PCM, Milne BS, Graphodatsky AS, Solanky N. 138.  et al. 1999. A complete comparative chromosome map for the dog, red fox and human and its integration with canine genetic maps. Genomics 62:189–202 [Google Scholar]
  139. Yang F, O'Brien PCM, Wienberg J, Ferguson-Smith MA. 139.  1997. A reappraisal of the tandem fusion theory of karyotype evolution in the Indian muntjac using chromosome painting. Chromosome Res. 5:109–17 [Google Scholar]
  140. Young BD, Ferguson-Smith MA, Sillar R, Boyd E. 140.  1981. High-resolution analysis of human peripheral lymphocyte chromosomes by flow cytometry. Proc. Natl. Acad. Sci. USA 78:7727–31 [Google Scholar]
  141. Young WJ, Mertz T, Ferguson-Smith MA, Johnston AW. 141.  1960. Chromosome number of the chimpanzee, Pan troglodytes. Science 131:1672–73 [Google Scholar]
  142. Zheng Y, Carter NP, Price CM, Coleman SM, Milton PJ. 142.  et al. 1993. Prenatal diagnosis from maternal blood: simultaneous immunophenotyping and FISH of fetal nucleated erythrocytes isolated by negative magnetic cell sorting. J. Med. Genetics 30:1051–56 [Google Scholar]

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