Counting human chromosomes before 1960: preconceptions, perceptions and predilections

ABSTRACT

In 1956 the biomedical world was surprised to hear a report that human cells each contained forty six chromosomes, rather than the forty eight count that had been documented since the 1920s. Application of available techniques to culture human cells in vitro, halt their division at metaphase, and disperse chromosomes in an optical plane permitted perception of visual images not seen before. Researchers continued to obtain the preconceived forty eight counts until reeducation with these novel epistemic ‘chromosomes’ convinced them that they could confidently report forty six chromosomes per cell. Within only a few years, and virtually without dissent, the social community of human cytogeneticists agreed upon a shared visual culture of human chromosome count and morphology. The initial forty six count proved not to be an anomaly. A new comparison of historical and ethnomethodological studies has suggested a better understanding of how applied technologies coupled with altered human perceptions established a new science. Human cytogenetics then collaborated with medical genetics to correlate changes in the new human karyotype with disorders of clinical significance.

KEYWORDS:

• Human chromosomes
• human cytogenetics
• preconceptions in biological research
• social conformity in biological research
• visual perspective in science

Disclosure statement

No potential conflict of interest was reported by the author(s).

Notes

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166 Charles E. Ford and others, ‘A Sex-Chromosome Anomaly in a Case of Gonadal Dysgenesis’, Lancet, 1 (1959), 711–12.

167 Patricia A. Jacobs and others, ‘Evidence for the existence of the human “super-female”’, Lancet, 2 (1959), 423; Kevles, pp. 241–48.

168 Jerome Lejeune, M. Gautier and R. Rurpin, ‘Etude des Chromosomes Somatiques de Neuf Enfants Mongoliens’, Compte Rendus de la Academie de Science, 248 (1959), 1721.

169 Harper, The Evolution of Medical Genetics, p. 44.

170 Paul E. Polani and others, ‘A Mongol Girl with 46 Chromosomes’, Lancet, 1 (1960), 721.

171 John H. Edwards and others, ‘A New Trisomic Syndrome’, Lancet, 1 (1960), 787.

172 Klaus Patau and others, ‘Multiple Congenital Anomaly Caused by an Extra Autosome’, Lancet, 1 (1960), 790.

173 Charles E. Ford and others, ‘The Chromosomes in a Patient Showing Both Mongolism and the Klinefelter Syndrome’, Lancet, 1 (1959), 709.

174 Lindee, p. 103.

175 Kevles, p. 250.

176 Sajiro Makino, ‘A Proposed Standard System of Nomenclature of Human Mitotic Chromosomes’, Cytologia, 25 (1960), 289–91; Hsu, Human and Mammalian Cytogenetics, pp. 58–63; Daniel Bergsma, ‘Chicago Conference: Standardization in Human Cytogenetics’, Birth Defects: Original Article Series, 2(2) (1966), 1–21; Ilana Löwy, Imperfect Pregnancies – A History of Birth Defects and Prenatal Diagnosis (Baltimore MD: Johns Hopkins University Press, 2017), p. 46.

177 Lindee, p. 94; de Chadarevian, Heredity under the Microscope, pp. 63–71.

178 Bergsma, pp. 1–21; Santesmases, ‘Circulating Biomedical Images’, p. 413; Lindee, p. 92; de Chadarevian, Heredity under the Microscope, p. 73.

179 Santesmases, ‘Circulating Biomedical Images’, p. 417; Maria Jesus Santesmases, ‘Size and the Centromere: Translocation and Visual Cultures in Early Human Genetics’, in Making Mutations: Object, Pictures, Contexts, ed. by Luis Campos and A. von Schwerin (Berlin: Max Planck Institut für Wissenschaftsgeshichte, 2010), pp. 189–207 (p. 191).

180 David Harnden, ‘Historical Introduction’, in ISCN 2013: An International System for Human Cytogenetic Nomenclature, ed. by Lisa G. Shaffer, Jean McGowan-Jordan, and Michael Schmid (Basel: Karger, 2013), pp. 1–5.

181 Michael Lynch, Scientific Practice and Ordinary Action – Ethnomethodology and Social Studies of Science (Cambridge: Cambridge University Press, 1993), p. 15; Gotz Hoeppe, ‘Medium, Calculation, Play: On Digital Images in Scientific Practice’, Social Studies of Science, 49 (2019), 758–84 (pp. 759–60).

182 Lorraine Daston and Peter Galison, Objectivity. (New York: Zone Books, 2010), pp. 13–19.

183 Daston and Galison, p. 34.

184 Daston and Galison, p. 43.

185 Daston and Galison, pp. 139–88.

186 Daston and Galison, pp. 331–44.

187 Wendt and Wolf, p. 1833; de Chadarevian, Heredity under the Microscope, p. 184.