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References
Kevles DJ: In the Name of Eugenics: Genetics and the Uses of Human Heredity. New York, Knopf, 1985.
Haidane JBS: The formal genetics of man. Proc R Soc Lond B 1948;153:147–170.
Haldane JBS: Genetic evidence for a cytological abnormality in man. J Genet 1932;26:341–344.
Chrustschoff GK, Berlin EA: Cytological investigations on cultures of normal human blood. J Genet 1935;31:243–261.
Editorial comment to the Report of the Denver Conference, 1960. Ann Hum Genet 1960;24: 319–325.
Boveri T: Zellenstudien. II. Die Befruchtung und Teilung des Eies von Ascaris megalocephala. Z Naturwiss 1888;22:685–882.
Boveri T: Ergebnisse über die Konstitution der chromatischen Substanz des Zellkerns. Jena, Fischer, 1904.
Sutton WS: On the morphology of the chromosome group in Brachystola magna. Biol Bull 1902;4:124–139.
Painter TS: Studies in mammalian spermatogenesis. II. The spermatogenesis of man. J Exp Zool 1923;37:291–335.
Kemp T: Über das Verhalten der Chromosomen in den somatischen Zellen des Menschen. Z Mikrosk Anat Forsch 1929;16:1–20.
Koller PC: The genetical and mechanical properties of sex chromosomes. III. Man. Proc R Soc Edinburgh B 1937;57:194–214.
Hsu TC: Mammalian chromosomes in vitro. I. The karyotype of man. J Hered 1952;43:167–172.
Darlington CD, Haque A: Chromosomes of monkeys and men. Nature 1955; 175:32.
Ford CE, Hamerton JL: The chromosomes of man. Nature 1956;178:1020–1023.
Jost A: Recherches sur la différenciation sexuelle de l’embryon de lapin. III. Rôles des gonades foetales dans la différenciation sexuelle somatique. Arch Anat Morphol Exp 1947; 36:271–315.
Polani PE, Hunter WF, Lennox B: Chromosomal sex in Turner’s syndrome with coarctation of the aorta. Lancet 1954;ii: 120–121.
Polani PE, Lessof MH, Bishop PMF: Colourblindness in ‘ovarian agenesis’. Lancet 1956;ii: 118–120.
Platt R, Stanton F: Ovarian agenesis with male skin sex. Evidence against parthenogenesis. Lancet 1956;ii:120–121.
Grumbach MM, Van Wyk JJ, Wilkins L: Chromosomal sex in gonadal dysgenesis (ovarian agenesis): Relationship to male pseudohermaphroditism and theories of human sex differentiation. J Clin Endocrinol 1955; 15:1161–1193.
Danon M, Sachs L: Sex chromosomes and human sexual development. Lancet 1957;ii:20–25.
Smith DR, Davidson WM (eds): Symposium on Nuclear Sex. London, Heinemann; New York, Interscience Publishers, 1958.
Davidson WM, Smith DR: A morphological sex difference in the polymorphonuclear neutrophil leucocytes. Br Med J 1954;ii:6–7.
Ford CE, Jacobs PA, Lajtha LG: Human somatic chromosomes. Nature 1958; 181:1565–1568.
Lejeune J, Gautier M, Turpin R: Etude des chromosomes somatiques de neuf enfants mongoliens. C R Acad Sci 1959;248:1721–1722.
Jacobs PA, Baikie AG, Court Brown WM, Strong JA: The somatic chromosomes in mongolism. Lancet 1959;i:710.
Böök JA, Fraccaro M, Lindsten J: Cytogenetical observations in mongolism. Acta Paediatr 1959;48:453–468.
Jacobs PA, Strong JA: A case of human inter-sexuality showing a possible XXY sex determining mechanism. Nature 1959; 183:302–303.
Ford CE, Polani PE, Briggs JH, Bishop PMF: A presumptive human XXY/XX mosaic. Nature 1959;183:1030–1032.
Ford CE, Jones KW, Polani PE, de Almeida JC, Briggs JH: A sex chromosome anomaly in a case of gonadal dysgenesis (Turner’s syndrome). Lancet 1959;i:711–713.
Fraccaro M, Kaijser K, Lindsten J: Somatic chromosome complement in continuously cultured cells of two individuals with gonadal dysgenesis. Ann Hum Genet 1960;24:45–61.
Tjio JH, Puck TT, Robinson A: The somatic chromosomal constitution of some human subjects with genetic defects. Proc Natl Acad Sci USA 1959;45:1008.
Russell WL, Russell LB, Gower JS: Exceptional inheritance of a sex-linked gene in the mouse explained on the basis of X/O sex chromosome in female. Proc Natl Acad Sci USA 1959;45:545–560.
Cattanach BM: XO mice. Genet Res 1962;3: 487–490.
Polani PE, Briggs JH, Ford CE, Clarke CM, Berg JM: A mongol girl with 46 chromosomes. Lancet 1960;i:721–724.
Carter CO, Hamerton JL, Polani PE, Gunalp A, Weller SDV: Chromosome translocation as a cause of familial mongolism. Lancet 1960;ii: 678–680.
Penrose LS, Ellis JR, Delhanty JDA: Chromosomal translocations in mongolism and in normal relatives. Lancet 1960;ii:409–410.
Fraccaro M, Kaijser K, Lindsten J: Chromosomal abnormalities in father and mongol child. Lancet 1960;i:724–727.
Steele MW, Breg WR: Chromosomal analysis of human amniotic fluid cells. Lancet 1966;i: 383–385.
Jacobs PA, Baikie AG, MacGregor TN, Maclean N, Harnden DG: Evidence for the existence of the human ‘super female’. Lancet 1959;ii:423–425.
Jacobs PA, Brunton M, Melville MM, Brittain RP, McClemont WF: Aggressive behaviour, mental subnormality and the XYY male. Nature 1965;208:1351–1352.
Edwards JH, Harnden DG, Cameron AH, Crosse VM, Wolff OH: A new trisomic syndrome. Lancet 1960;i:787–790.
Pätau KA, Smith DW, Therman EM, Inhorn SL, Wagner HP: Multiple congenital anomaly caused by an extra autosome. Lancet 1960;i: 790–793.
Court Brown MW: Human Population Cytogenetics. Amsterdam, North-Holland, 1967.
Caspersson T, Lomakka G, Zech L: The 24 fluorescence patterns of the human metaphase chromosomes — Distinguishing characters and variability. Hereditas 1971;67:89–102.
Caspersson T, Lindsten J, Zech I: Identification of the abnormal B group chromosome in the ‘cri du chat’ syndrome by QM-fluorescence. Exp Cell Res 1970;61:475–476.
Jacobs PA, Ross A: Structural abnormalities of the Y chromosome in man. Nature 1966;210: 352–354.
Solari AJ, Très LL: The three-dimensional reconstruction of the XY chromosomal pair in human spermatocytes. J Cell Biol 1970;45:43–53.
Solari AJ: Synaptonemal complexes and associated structures in microspread human spermatocytes. Chromosoma 1980;81:315–337.
Haldane JBS: A search for incomplete sex-linkage in man. Ann Eugen 1937;7:28–57.
Polani PE: Pairing of X and Y chromosomes, non-activation of X-linked genes, and the maleness factor. Hum Genet 1982;60:207–211.
Ferguson-Smith MA: X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter’s syndrome. Lancet 1966;ii:475–476.
Polani PE: Abnormal sex development in man. I. Anomalies of sex-determining mechanisms; in Austin CR, Edwards RG (eds): Mechanisms of Sex Differentiation in Animals and Man. London, Academic Press, 1981, pp 479–484.
Page DC, Mosher R, Simpson EM, Fisher EMC, Mardon G, Pollack J, McGillivray B, de la Chapelle A, Brown LG: The sex-determining region of the human Y chromosome encodes a finger protein. Cell 1987;51:1091–1104.
Sinclair AH, Berta P, Palmer MS, Ross Hawkins J, Griffiths BL, Smith MJ, Foster JW, Frischauf A-M, Lovell-Badge R, Goodfellow PN: A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 1990; 346:240–244.
Koopman P, Münsterberg A, Capel B, Vivian N, Lovell-Badge R: Expression of a candidate sex-determining gene during mouse testis differentiation. Nature 1990;348;450–452.
Werner MH, Huth JR, Gronenborn AM, Clore GM: Molecular basis of human 46,XY sex reversal revealed from the three dimensional solution structure of the human SRY DNA complex. Cell 1995;81:705–714.
Wagner T, Wirth J, Meyer J, Zabel B, Heid M, Zimmer J, Pasantes J, Dagna-Bricarelli F, Keutel J, Hustert E, Wolf U, Tommerup N, Schemp W, Scherer G: Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SKF-related gene SOX9. Cell 1994;79:1111–1120.
Bardoni B, Zanaria E, Guioli S, Floridia G, Worley KC, Tonini G, Ferrante E, Chiumello G, McCabe ERB, Fraccaro M, Zuffardi O, Camerino G: A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Genet 1994;7:497–501.
Kreidberg JA, Sariola H, Loring JM, Maeda M, Pelletier J, Housman D, Jaenisch R: WT-1 is required for early kidney development. Cell 1993;74:679–691.
Luo X, Ikeda Y, Parker KL: A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation. Cell 1994;77:481–490.
Mittwoch U: Genetics of sex determination: an overview. Adv Genome Biol 1996;4:1–28.
Lyon MF: Gene action in the X-chromosome of the mouse (Mus musculus). Nature 1961; 190:372–373.
Ohno S, Kaplan WD, Kinosita R: Formation of the sex chromatin by a single X-chromosome in liver cells of Rattus norvegicus. Exp Cell Res 1959;18:415–418.
Morishima A, Grumbach MM, Taylor JH: Asynchronous duplication of human chromosomes and the origin of sex chromatin. Proc Natl Acad Sci USA 1962;48:756–763.
Russell LB: Genetics of mammalian sex chromosomes. Science 1961;133:1795–1803.
Beutler E, Yeh M, Fairbanks VF: The normal human female as a mosaic of X-chromosome activity: studies using the gene for G-6-PD-deficiency as a marker. Proc Natl Acad Sci USA 1962;48:9–16.
Stewart JSS: Genetic mechanisms in human intersexes. Lancet 1960;i:825–826.
Grumbach MM, Morishima A: Sex chromatin and the sex chromosomes on the origin of sex chromatin from a single X-chromosome. Acta Cytol 1962;6:46–60.
Lyon MF: Sex chromatin and gene action in the mammalian X-chromosome. Am J Hum Genet 1962;14:135–148.
Russell LB: Mammalian X-chromosome action: inactivation limited in spread and in region of origin. Science 1963;140:976–978.
Therman E, Sarto GE, Pätau KA: Center for Barr body condensation on the proximal part of the human Xq: A hypothesis. Chromosoma 1974;44:361–366.
Lyon MF: Some milestones in the history of X-chromosome inactivation. Annu Rev Genet 1992;26:17–28.
Brown CJ, Ballabio A, Rupert JL, Lafreniere RG, Grompe M, Tonlorenzi R, Willard HF: A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome. Nature 1991;349:38–44.
Barski G, Sorieul S, Cornefert F: Production dans des cultures in vitro de deux souches cellulaires en association de cellules de caractère «hybride». CR Acad Sci Paris 1960;251:1825–1827.
Ephrussi B, Sorieul S: Nouvelles observations sur l’hybridation in vitro de cellules de souris. CR Acad Sci Paris 1962;254:181–182.
Weiss MC, Green H: Human-mouse hybrid cell lines containing partial complements of human chromosomes and functioning human genes. Proc Natl Acad Sci USA 1967;58:1104–1111.
Miller OJ, Allderdice PW, Miller DA, Breg WR, Migeon BR: Human thymidine kinase gene locus. Assignment to chromosome 17 in a hybrid of man and mouse cells. Science 1971; 173:244–245.
Donahue RP, Bias WB, Renwick JH, McKusick VA: Probable assignment of the Duffy blood group locus to chromosome 1 in man. Proc Natl Acad Sci USA 1968;61:949–955.
McKusick VA: Mendelian Inheritance in Man, ed 8. Baltimore, Johns Hopkins University Press, 1988.
Köhler G, Milstein C: Continuous cultures of fused cells secreting antibody of predefined specificity. Nature 1975;256:495–497.
Barski G, Cornefert F: Characteristics of ‘hybrid’-type clonal cell lines obtained from mixed cultures in vitro. J Natl Cancer Inst 1962;28: 801–821.
Harris H, Miller OJ, Klein G, Worst P, Tachibana T: Suppression of malignancy by cell fusion. Nature 1969;223:363–368.
von Hansemann D: Über asymmetrische Zellteilung in Epithelkrebsen und deren biologische Bedeutung. Virchow’s Arch Pathol Anat 1890;119:299–326.
Boveri T: Zur Frage der Entstehung maligner Tumoren. Jena, Fischer, 1914.
Nowell PC, Hungerford DA: A minute chromosome in human chronic granulocytic leukemia. Science 1960; 132:1497.
Heim S, Mitelman F: Cancer Cytogenetics. New York, Liss, 1987.
Lele KP, Penrose LS, Stallard HB: Chromosome deletion in a case of retinoblastoma. Ann Hum Genet 1963;27:171–174.
Wilson MG, Melnyk J, Towner JW: Retinoblastoma and deletion D(14) syndrome. J Med Genet 1969;6:322–327.
Polani PE: Autosomal imbalance and its syndromes, excluding Down’s. Br Med Bull 1969; 25:81–93.
Knudson AG: Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 1971;68:820–823.
Ohno S: Genetic implication of karyological instability of malignant somatic cells. Physiol Rev 1971;51:496–526.
Knudson AG: Hereditary cancer, oncogenes and antioncogenes. Cancer Res 1985;45:1437–1443.
Goddard AD, Solomon S: Genetic aspects of cancer; in Harris H, Hirschhorn K (eds): Advances in Human Genetics. New York, Plenum Press, 1993, vol 21, pp 321–376.
Gallie BL, Phillips RA, Ellsworth RM, Abramson DH: Significance of retinoma and phthisis bulbi for retinoblastoma. Ophthalmology 1982;89:1393–1399.
Sparkes RS, Murphree AL, Lingua RW, Sparkes MC, Field LL, Funderburk SJ, Benedict WF: Gene for hereditary retinoblastoma assigned to human chromosome 13 by linkage to esterase D. Science 1983;219:971–973.
Friend SH, Bernards R, Rogelj S, Weinberg RA, Rapaport JM, Alberts DM, Dryja TP: A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature 1986;323:643–646.
Friend SH, Horowitz JM, Gerber MR, Wang X-F, Bogenmann E, Li FP, Weinberg RA: Deletions of a DNA sequence in retinoblastomas and mesenchymal tumors: organization of the sequence and its encoded protein. Proc Natl Acad Sci USA 1987;84:9059–9063.
Harris H: The Cells of the Body: A History of Somatic Cell Genetics. Cold Spring Harbor, Cold Spring Harbor Laboratory Press, 1995.
Muller HJ: The gene (Pilgrim Trust Lecture). Proc R Soc Lond B 1947;134:1–37.
Additional References
Cattanach BM: XXY mice. Genet Res 1961;2:156–158.
Russell WL, Chu EHY: An XXY male in the mouse. Proc Natl Acad Sci USA 1961;47:571–575.
Carr DH: Chromosome studies in spontaneous abortions. Obstet Gynecol 1965;26:308–326.
Boué A, Boué J, Gropp A: Cytogenetics of pregnancy wastage; in Harris H, Hirschhorn K (eds): Advances in Human Genetics. New York, Plenum Press, 1985, vol 14, pp 1–57.
Casey MD, Segall LJ, Street DRK, Blank CE: Sex chromosome abnormalities in two State hospitals for patients requiring special security. Nature 1966;209:641–642.
Giannelli F: Human Chromosomes: DNA Synthesis. Basel, Karger, 1970.
Seabright M: A rapid banding technique for human chromosomes. Lancet 1971;ii:971–972.
Adinolfi M, Crolla J: Nonisotopic in situ hybridization; in Harris H, Hirschhorn K (eds): Advances in Human Genetics. New York, Plenum Press, 1994, vol 22, pp 187–255.
Heiskanen M, Peltonen L, Palotie A: Visual mapping by high resolution FISH. TIG 1996;12: 379–382.
Eicher EM: Autosomal genes involved in mammalian primary sex determination. Philos Trans R SocLond [B] 1988;322:109–118.
Jiménez R, Sà nchez A, Burgos M, de la Guardia RD: Puzzling out the genetics of mammalian sex determination. TIG 1996;12:164–166.
Epstein CJ, Smith S, Travis B, Tucker G: Both X chromosomes function before visible X chromosome inactivation in female mouse embryos. Nature 1978;274:500–503.
Takagi N. Preferential inactivation of the paternally derived X chromosome in mice; in Russell LB (ed): Genetic Mosaics and Chimeras in Mammals. New York, Plenum Press, 1978, pp 341–360.
Jablonka E, Lamb MJ: Meiotic pairing constraints and the activity of sex chromosomes. J Theor Biol 1988;133:23–26.
Riggs AD: X inactivation, differentiation and DNA methylation. Cytogenet Cell Genet 1975; 14:9–25.
Brockdorff N, Ashworth A, Kay GF, Cooper P, Smith S, McCabe VM, Norris DP, Penny GD, Patel D, Rastan S: Conservation of position and exclusive expression of mouse Xist from the inactive X chromosome. Nature 1991; 351: 329–331.
Harris H: Behaviour of differentiated nuclei in heterokaryons of animal cells from different species. Nature 1965;206:583–588.
Harris H, Watkins JF: Hybrid cells derived from mouse and man. Artificial heterokaryons of mammalian cells from different species. Nature 1965;205:640–646.
Ponz de Leon M: Familial and Hereditary Tumours. Berlin, Springer-Verlag, 1994.
Le Beau MM, Rowley JD: Chromosomal abnormalities in leukemia and lymphoma: clinical and biological significance; in Harris H, Hirschhorn K (eds): Advances in Human Genetics. New York, Plenum Press, 1986, vol 15, pp 1–54.
Solomon E, Borrow J, Goddard AD: Chromosome aberrations and cancer. Science 1991;254: 1153–1160.
Jay M: The Eye in Chromosome Duplications and Deficiencies. New York, Dekker, 1977.
Hamel PA, Phillips RA, Muncaster M, Gallie BL: Speculations on the roles of RB1 in tissue-specific differentiation, tumor initiation and tumor progression. FASEB J 1993;7:846–854.
Orye E, Delbeke MJ, Vandenabeete B: Retinoblastoma and D-chromosome deletions. Lancet 1971;ii:1376.
Wilson MG, Towner JW, Fujimoto A: Retinoblastoma and D-chromosome deletions. Am J Hum Genet 1973;25:57–61.
Dryja TP, Cavenee W, White R, Rapaport JM, Petersen R, Albert DM, Bruns GAP: Homozygosity of chromosome 13 in retinoblastoma. N Engl J Med 1984;310:550–553.
Dunn JM, Phillips RA, Becker AJ, Gallie BL: Identification of germline and somatic mutations affecting the retinoblastoma gene. Science 1988;241:1979–1800.
Bookstein R, Shew JY, Chen PL, Scully P, Lee W-H: Suppression of tumorigenicity of human prostate carcinoma cells by replacing a mutated RB gene. Science 1990;247:712–715.
Dujon B: The yeast genome project: what did we learn? TIG 1996;12:263–270.
Additional Sources
Hamerton JL (ed): Chromosomes in Medicine. London, Medical Advisory Committee of the Spastics Society in association with William Heinemann Ltd, 1962.
Hamerton JL: Human Cytogenetics, New York, Academic Press, 1971, vol 1.
Hamerton JL: Human Cytogenetics, New York, Academic Press, 1971, vol 2.
Polani PE: The Impact of Genetics on Medicine. London, Royal College of Physicians, 1990.
Polani PE: Medical and clinical genetics: their roots and challenge. Acta Genet Med Gemellol (Roma) 1996;45:127–136.
Ramkissoon Y, Goodfellow P: Early steps in mammalian sex determination. Curr Opin Genet Dev 1996;6:316–321.
Acknowledgment
I thank Miss Lesley Exton, Librarian of the Paediatric Research Unit, Division of Medical and Molecular Genetics at Guy’s, and her predecessors, for their help in collecting the references and sources, and Miss Adrienne Knight for setting them in type.
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Adapted from the Carter Lecture, York, September 17, 1996.
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Polani, P.E. Human and Clinical Cytogenetics: Origins, Evolution and Impact. Eur J Hum Genet 5, 117–128 (1997). https://doi.org/10.1007/BF03405889
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DOI: https://doi.org/10.1007/BF03405889