Social Studies of Science

Social Studies of Science
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Dermatoglyphics and the Persistence of `Mongolism': Networks of

Technology, Disease and Discipline
Fiona Alice Miller
Social Studies of Science 2003; 33; 75
DOI: 10.1177/0306312703033001311
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ABSTRACT In 1961, a prestigious group of medical researchers called on their
colleagues to stop using the language of ‘Mongolism’ to describe people with what
we now call ‘Down’s syndrome’ (or Trisomy 21). This call responded to new
knowledge about the biological basis of Down’s syndrome: rather than the product
of racial degeneration, as had been hypothesized in the 19th century, the condition
was the result of an extra chromosome, dubbed ‘21’. Yet, despite this plea, the terms
‘Mongol’ and ‘Mongolism’ continued in scientific use through the 1960s.
Drawing on published and archival materials, I argue that the new knowledge
about chromosomes did not rupture older patterns of scientific practice or
interpretation, and with them, older terminological habits. The persistence of the
language of Mongolism reflects the continuity of a network of older approaches to
interpreting the condition within the community of human and medical geneticists,
including an enduring diagnostic and interpretive technology, dermatoglyphics. Old
networks were not supplanted; they were re-aligned.
Keywords cytogenetics, Down’s syndrome, genetics, science, technology and culture
Dermatoglyphics and the Persistence of

‘Mongolism’:
Networks of Technology, Disease and Discipline
Fiona Alice Miller
In 1961, a prestigious group of scientists published a joint statement in the

journal The Lancet, and concurrently in the American Journal of Human
Genetics (Allen et al., 1961).1 The purpose of the joint statement was to
discourage use of the term ‘Mongolism’: ‘We urge . . .’, the authors wrote,
‘that the expressions which imply a racial aspect of the condition no longer
be used’.
The term ‘Mongolism’ had been coined in the 1860s, in the context of
debates about the polygenic or monogenic origins of humanity. Declaring
the persons afflicted with this condition to be reversions to the Mongols of
Asia, the physician, John Langdon Haydon Down, argued that the capacity
of Europeans to breed more ‘primitive’ types provided proof that the
human species had a single origin (Kevles, 1997: 160). The association
between Mongoloid ‘imbeciles’ and the national group of Mongols was
increasingly challenged through the first half of the 20th century. But the
racialized terminology for this poorly understood condition persisted.2 By
Social Studies of Science 33/1(February 2003) 75–94

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76 Social Studies of Science 33/1
1961, however, the drafters of the joint statement hoped that scientific
knowledge was sufficient to fully discredit the old language. In 1959, they
pointed out, the chromosomal basis of the condition had been accepted: an
additional chromosome, and not any sort of racial degeneration, was
responsible.
The year, 1959, was a watershed in the history of human and medical
genetics. Not only were extant clinical conditions like ‘Mongolism’ newly
explained by chromosome anomalies, but after 1959, in the age of cytoge-
netic discovery which followed, human genetics assumed increased promi-
nence as a range of new clinical syndromes were constructed by the
correlation of symptom complexes with evidence of chromosomal anomaly
(Lindee, 2002). In light of this new era of medical cytogenetics, the
drafters of the joint statement suggested that it was ‘an appropriate time to
introduce the term “trisomy 21 anomaly”’ (Allen et al., 1961).
But despite this plea, the designation ‘Mongolism’ continued in use in
major scientific journals into the 1970s. Throughout the 1960s, the Amer-
ican Journal of Human Genetics, the organ of the American Society of
Human Genetics, featured the language of Mongolism, and it was not until
1971 that the journal’s index directed readers to the term ‘Down’s syn-
drome’ in its stead.3 Moreover, it was not until 1975 that MEDLINE
definitively replaced ‘Mongolism’ with ‘Down’s syndrome’ in its list of
medical subject headings.4 Indeed, the language of ‘Mongolism’ persisted
not simply within the broad community of medical scientists but among
precisely that community of researchers – those investigating chromosome
anomalies – who, by the logic of scientific clarity invoked by the framers of
the 1961 joint statement, would be most likely to understand its
inappropriateness.
In this paper, I argue against the inference of a ‘rupture’ in the
scientific interpretation of Mongolism as a consequence of cytogenetic
developments. Contrary to conventional beliefs about new, breakthrough
technologies, the introduction of chromosome analysis in the late 1950s
did not displace existing standards of interpretation and practice.5 Instead,
older technologies, research workers and their disease interpretations,
including their terminological habits, continued to play a significant rôle. A
full history of the problematic language of Mongolism, the many reasons
for its persistence and for its ultimate demise, is not provided here.6
Rather, I discuss one dimension of continuity as the 1950s became the
1960s: the continuing salience of a seemingly outdated set of technical
practices, ‘dermatoglyphics’ (the study of skin patterns on the hands and
feet).7 Instead of creating a rupture, the new technology of chromosome
analysis, and the workers who wielded this powerful tool, interfaced with
a network of technology, workers and disease interpretations that had
previously ‘owned’ ‘Mongolism’.8 The interpretation of chromosomal
disorders that developed after 1959 was the product of a re-aligned
network that incorporated new and old actors, technologies, and disease
meanings.9

Miller: Dermatoglyphics & the Persistence of ‘Mongolism’ 77
Sources
This account draws on a review of archival material from the papers of

involved scientists and the published medical literature on dermatoglyphics
and Down’s syndrome from the 1940s through the 1960s. I use methods of
critical interpretation to develop a historical analysis and a case study. I
briefly recount the history of dermatoglyphic techniques, re-placing this
largely forgotten technology within the history of human and medical
genetics. I also review the place of the medical cytogenetics revolution in
the post-WWII history of human and medical genetics. I then turn to an
examination of the age of cytogenetic discovery, and provide a case study
of the workings of the technology-disease-discipline network. Specifically, I
examine episodes in the collaboration between a cytogeneticist trained
originally with plant material, Klaus Patau, at the University of Wisconsin
in Madison, and a human geneticist, Irene Uchida, at the University of
Manitoba in Winnipeg, whose dermatoglyphic expertise reflected a Cana-
dian research tradition (Miller, 2002).
Arguments
This paper discusses a period of considerable growth in the history of

human and medical genetics. In the inter-war and World War II years, the
discipline was an intellectual and institutional backwater in North America
(Lindee, 2002); indeed, before 1948, when the American Society of
Human Genetics was founded, institutional supports for the discipline
were disparate and disorganized.10 It was in the post-war era of booming
biomedicine and the atom bomb that human and medical genetics gained
coherence and stature: see Lindee (1994, 2002), Beatty (1991).
Traditional accounts suggest that the discipline’s growth was fostered
by two key techno-scientific developments: first, advances in medical
biochemistry in the 1950s that linked specific metabolic errors to heritable
conditions; and second, the era of medical cytogenetics in the 1960s.11
Victor McKusick, the pioneering American medical geneticist, has empha-
sized the significance of this second shift – the successful application of
cytological technique to human cells from the mid-1950s, and by the late
1950s, the discovery of chromosomal anomalies in human cells that
correlated with clinical conditions. In reflecting on the development of his
discipline, McKusick has noted sardonically that with the opening of the
era of medical cytogenetics, he and his fellow workers had finally found
‘our organ’ (McKusick, 1975: 262). Chromosomal analysis permitted
medical geneticists, this comment suggests, to join the ranks of other
medical scientists in the possession of a specific body part. Henceforth,
they could claim tangible evidence of the workings of heredity in human
bodies and lives. Traditional accounts such as McKusick’s share with the
1961 joint statement the faith that technological change and scientific
insight provide sufficient explanation for scientific and social change.

By contrast, researchers working within constructivist traditions in

science studies suggest more complex and contingent processes of scien-
tific development. Actor-network theorists argue that scientific findings
become accepted facts through the complex work of network building,
where actors and actants develop strategic linkages for the distribution of
their practices and ideas.12 Social-worlds theorists discuss how actors with
different degrees of power enrol the interests of others in their ways of
doing things; by developing shared ways of communicating with each
other, including shared tools and theories, communities forge social
worlds.13 Within these networks and social worlds, researchers ‘tinker’ to
develop and use the ‘right tools’ for particular jobs (Clarke & Fujimura,
1992; Casper & Clarke, 1998); they pursue problems that are ‘do-able’,
and they attend to the work of articulating various components of practice,
including tools, theories, people, resources, and spaces (Fujimura, 1987).
In a similar manner, social historians of medical science stress the intimate
inter-relations between medical disciplines, technologies and disease iden-
tities. Joel Howell, in his analysis of the evolving rôle of X-rays in hospitals,
argues that technological purpose and professional identity developed in
concert (Howell, 1995). Similarly, in a study of the history of blood
disorders, Keith Wailoo (1997) argues that disease identity and pro-
fessional identity are co-constructed.
This paper draws on these theoretical and socio-historical accounts in
examining a brief period of accelerated change in the genetic interpretation
of certain clinical conditions after 1959. During this period, the clinical
condition of ‘Mongolism’ was reinterpreted, and several new clinical
conditions were constituted for which ‘Mongolism’ served as the prototype
– the exemplary cytogenetic disease. This process of disease interpretation
and re-interpretation, I argue, proceeded through the re-alignment of
socio-technical networks. Within these networks, I emphasize three com-
ponents: technologies, professional identities and disease interpretations.
Technology
Prior to 1959, a technology dating to the 19th century had an established
place in the medical interpretation of persons with what we now call
‘Down’s syndrome’. The enduring but now marginal technology of derma-
toglyphics supported a developmental interpretation of the disease; in
some places the utility of this technology also extended to clinical diag-
nosis. Far from being supplanted when the cytogenetic interpretation of
Down’s syndrome was established, the seemingly antiquated technology of
dermatoglyphics was a useful contributor to the emerging science of
medical cytogenetics.
Professional Identity
The continuing relevance of dermatoglyphics implied more than technical
endurance. The old tool of dermatoglyphics was wielded by workers
trained in the discipline of human genetics. Moreover, the people who

possessed this technical expertise and the places where they worked
reflected historical patterns in the development of diverse research tradi-
tions within the nascent science of human genetics. Specifically, dermal
analysis was a primary research tool within a Canadian research tradition,
centred in Toronto. Meanwhile, cytological expertise was, for the most
part, held by workers who had been trained within the disciplines of
pathology or animal or plant cytology. The emergence of the discipline of
medical cytogenetics, and its residence under the disciplinary umbrella of
human and medical genetics, relied on new alignments among these
diverse sets of workers.
Disease Interpretation
The phenomenon of ‘Mongolism’ pre-dated 1959. Though not a decisively
‘genetic’ condition before the era of medical cytogenetics (according to
current usage), it had been managed by the discipline of human genetics
and interpreted using various ‘genetic’ technologies, including dermato-
glyphics. After 1959, the phenomenon of ‘Mongolism’ served as a physical,
technical and ideational prototype in the interpretation of an array of new
diseases identified in the early years of cytogenetic discovery. Specifically, a
network of technology, professional identity and disease interpretation
helped to constitute two new trisomy syndromes identified by 1960 – the
‘D’ and ‘E’ syndromes – and to consolidate an emergent meta-category of
genetic disease: the autosome anomalies.
The Old Practice: Dermatoglyphics and Human and Medical

Geneticists
Historians of human and medical genetics have concentrated on those
research practices that, in hindsight, have seemed most prescient and
successful.14 Scientific figures and techniques that appear to lead to con-
temporary successful practices achieve most attention. Apparently mar-
ginal figures and their techniques, whose science is ‘good enough’ but not
leading edge, are largely ignored.15 Dermatoglyphic analysis has fallen prey
to this neglect. The technology has seemed antiquated and irrelevant, and
the research questions the technology was used to address have been
dismissed as sidelines on the march toward contemporary progress. Yet
what appears in hindsight as marginal science may none the less, and by
circuitous routes, prove consequential (Miller, 2002).
Despite scholarly neglect, the study of dermal patterns on the hands
and feet is an enduring technology of medical science and clinical practice.
It harkens back to the 19th century, and remains a respectable, though
marginal, resource today (see: Reed, 1981; Plato et al., 1991; Bartsocas,
1982). In the 1930s, dermatoglyphics emerged as a valuable tool for
research on Mongolism, when it was established that this disease constitu-
tion was characterized by a specific set of dermal patterns (see: Penrose,
1931, 1948; Cummins, 1936, 1939). Indeed, prior to Jérôme Lejeune’s
switch to cytogenetic analysis, which resulted in his discovery of the

chromosomal basis of the condition in the late 1950s, Lejeune had

pursued dermatoglyphic research. Historians who have studied this period
have missed the extent to which dermatoglyphic analysis was a common
and appropriate resource for interpreting this condition. Historian Daniel
Kevles, for example, characterizes Lejeune’s reliance on dermatoglyphics
as the product of ‘Postwar French austerity’.16 Yet Lejeune was joined in
this reliance on dermatoglyphics by such figures as Lionel Penrose, one of
the premier members of the British school of human genetics, who made
Down’s syndrome a major research subject throughout his career. Penrose
published widely on dermatoglyphics through the 1960s.17 And in various
centres around the world, researchers used dermatoglyphic techniques to
develop the science and advance the clinical practice of human and
medical genetics from the 1930s on.
Dermatoglyphic analysis had its debut in the 19th century, but it was
in the 1930s and 1940s that it was rendered systematic. The manifesto of
dermatoglyphics was the 1943 monograph, Finger Prints, Palms and Soles:
An Introduction to Dermatoglyphics, by Harold Cummins and Charles
Midlo, of Tulane University (Cummins & Midlo, 1961 [1943]). Dermato-
glyphics, these authors noted, was a ‘relatively neglected aspect of human
biology’ (ibid: vii). Yet their text was intended to demonstrate the versatility
of this technique and its potential.
Though the assessment of dermal patterns was best known as a
forensic resource, Cummins and Midlo argued that such assessments were
of value for more than individual identification. Analysis of these patterns
provided definitive evidence in twin diagnosis (diagnosing the zygosity of
twin sets) and the related twin studies, and could be used in the identifica-
tion and assessment of ‘racial’ populations, and in studies of inheritance.
In recommending dermatoglyphics, Cummins and Midlo acknowledged
the genetical complexity of dermal patterns. They recognized that the tools
of formal genetics – notably pedigree analysis – could not fully explain the
nature of dermal patterns. Yet the attraction of dermatoglyphics as a tool of
investigation was a function of this complexity – the responsiveness of
dermal patterns to environmental and genetical influences and devel-
opmental processes.
Dermatoglyphic analysis was consonant with what Hamilton Cravens
has characterized as a ‘new mentality’ in the life sciences from the 1920s
through the 1950s, which privileged interdisciplinarity and a gestalt vision
of the whole and its parts. This mentality fostered attention to heredity and
environment as interactive rather than oppositional forces (Cravens, 1991:
134, 135; 1978: Chapter 3). As the brilliant British polymath and acknowl-
edged pioneer in human genetics, J.B.S. Haldane, argued in the late 1930s
and early 1940s, the human geneticist had to be a human biologist first,
addressing both genetical and environmental factors, to avoid the twin
extremes of eugenics and environmentalism.18
Dermal analysis was exploited by human and medical geneticists who
– unlike their more exalted peers in basic genetics – accepted the practical
entanglements and ‘messy science’ of work with the human animal.19 In

addition, dermatoglyphics was associated with holistic traditions in aca-

demic medicine, notably constitutional medicine. Dermal patterns were
diagnostic of constitutions: the constitutions of race, sex, handedness,
disease susceptibility, character, temperament, criminality and degeneracy,
among others (Cummins & Midlo, 1961 [1943]: Chapter 16). As historian
Sarah Tracy (1998) has pointed out, American constitutional medicine
emerged in the 1920s against the backdrop of the seeming dominance of
the infectious disease paradigm and asserted the relevance of the human
‘constitution’ in disease causation. Remaining a force in academic medi-
cine through the 1950s, attention to the human constitution explored,
according to a proponent, ‘that aggregate of hereditarial characters, influ-
enced more or less by environment, which determines the individual’s
reaction, successful or unsuccessful, to the stress of the environment’
(Tracy, 1998: 161).20 Sarah Tracy (ibid.: 161) suggests that this approach
was both a version of holism and a home for researchers interested in
heredity. For some scientists, Tracy argues, ‘constitutional medicine of-
fered a more legitimate scientific framework for the study of human
genetics than did the increasingly politicized eugenics movement’ (ibid.:
165).
Dermatoglyphic analysis supported the broad aetiological concerns of
many members of the nascent community of medical and human geneti-
cists. It also had specific technological application in the study of twins,
and the study of ‘Mongoloid imbeciles’. The study of twins was central to
human genetics research in the 1930s and 1940s (Miller, 2000: 58). For
researchers interested in behaviouralist and constitutionalist studies of
twins, to support theorizing about the relative contributions of environ-
ment and heredity, a key challenge was the accurate diagnosis of the
fraternal or identical status of twin sets. In the inter-war years, dermato-
glyphic analysis was the emerging ‘gold standard’ for the differential
diagnosis of twins.21
By the late 1930s, a second major application of dermatoglyphic
technique was announced. Building on observations of digital creases in
Mongols made by Lionel Penrose (1931, 1948), Harold Cummins (1936,
1939) demonstrated that the Mongol constitution was characterized by a
specific set of dermal patterns. Cummins’ research, and confirmatory
research elsewhere, established that the Mongoloid constitution was re-
lated to a ‘disturbance of growth’ as early as the third and fourth foetal
months (Miller, 2000). These findings supported studies to determine
what other disease processes could be diagnosed through dermal
patterns.
Dermatoglyphic analysis was an acknowledged tool of human and
medical genetic investigation in the inter-war and World War II years.
Expertise with this technique was held by internationally pre-eminent
human genetic investigators, notably Lionel Penrose and Jérôme Lejeune.
The dermatoglyphic analysis and diagnosis of Mongolism helped to assert
the governance of this complex and poorly understood disease syndrome
by the nascent discipline of human and medical genetics, even though the

syndrome was, by today’s standards, inadequately explained by genetic

factors.
Dermatoglyphic analysis also became a major tool within particular
research schools.22 In 1934, when the world’s most famous set of quintup-
lets – the Dionne quintuplets – were born in small-town Ontario, dermato-
glyphic analysis was instrumental in demonstrating that all five were the
product of a single zygote. A young zoologist at the University of Toronto,
Norma Ford Walker, was introduced to dermatoglyphic technique through
her participation in the biological analysis of the Dionne quints. After this
high-profile project, Ford Walker would go on to develop a research school
in human and medical genetics in which dermatoglyphic techniques, rather
than formal genetic analysis, were at the centre (Miller, 2000: Chapter 1).
Ford Walker’s students confirmed Cummins’ observation of distinctive
dermal patterns in Mongoloids, and used this observation to support
constitutionalist studies. Later, Ford Walker developed a diagnostic index
of dermal patterns that, by the 1950s, was used for the diagnosis of most
cases of suspected Mongolism in the city of Toronto (Miller, 2000:
Chapters 2 & 6). It was within this research school that a large proportion
of Canada’s post-WWII medical geneticists, including Irene Uchida, were
trained.
After 1959, far from being displaced, the old tool of dermatoglyphics
experienced something of a renaissance through its use as a supplement to
the new tools of cytogenetics. Dermatoglyphic analysis could aid in syn-
drome diagnosis and chromosome identification, and provide resources for
theorizing about genetic processes.
The New Practice: Chromosome Analysis

It was not until after World War II that human and medical genetics made
much headway. In the post-war era of expanding biomedicine and the
atomic bomb this nascent discipline moved beyond what M. Susan Lindee
has characterized as a ‘ghetto of irrelevance’.23 The founding of the
American Society of Human Genetics in 1948 was symbolic of this
expansion. Also symbolic was Herman Muller’s election as the first Presi-
dent of the new Society. As John Beatty has pointed out, the elevation of a
Drosophila geneticist to this position highlighted the weakness of the
human genetics community (Beatty, 1991).
Muller took the opportunity of the first presidential address to the
Society to direct his less auspicious peers in more classical and experi-
mental directions (Muller, 1949). In 1948, Muller outlined the ‘errors to
be avoided’ in human genetics, and the ‘trends in modern work’ that could
and should be followed.24 Among those tools he enjoined his colleagues to
adopt were the resources of cytology for the direct examination of human
chromosomes. Yet it was almost a decade before this charge was observed.
The human chromosome number was definitively identified as 46 rather
than 48, as had long been believed, only in 1956. But propelled by
developments in cell-culture technique, researchers soon initiated the age

of medical cytogenetics – identifying human chromosomal anomalies

which were correlated with extant clinical syndromes.
In a flurry of activity, in 1959, three distinct clinical syndromes –
Mongolism, Turner’s and Klinefelter’s – were attributed to major morpho-
logical changes in the human chromosome complex. Mongolism was due
to an extra chromosome, dubbed ‘21’ (Lejeune et al., 1959: 603). Turner’s
syndrome, which describes a complex in a woman involving short stature,
primary infertility, and some distinct physical signs such as a webbed neck
and broad chest, was due to the absence of one X chromosome: instead of
XX, a woman with Turner’s syndrome had a single X complex. Finally,
Klinefelter’s syndrome, a complex in a man involving atrophied testes post-
puberty (and, in the late 1950s, several other sexual anomalies that were
later seen not to be definitive), was due to the addition of one X chromo-
some: instead of XY, a man with Klinefelter’s syndrome had an XXY
complex.
A standard account of these developments is that they initiated a new
approach to the interpretation and management of extant clinical condi-
tions. By this account, the age of cytogenetic discovery in the early 1960s
in which new disease syndromes were constituted using evidence of
chromosomal anomaly, draws almost entirely on new resources. Yet these
developments also confirmed the resilience of the older network of disease
interpretation, discipline and technology. Especially suggestive of these
continuities was the retention of the old technology of dermatoglyphics.
In part, the retention of dermatoglyphics was justified on technical
grounds. In the early 1960s, when many of the technical improvements
that would enable direct identification of each chromosome were still a
decade away, cytogenetic evidence was very difficult to interpret. Through-
out this period, a karyotype was an attempt to organize the scattered
chromosomal evidence available in a human cell into a coherent plot of 46
(or more, or less) chromosomes. The karyotype was constructed in accord-
ance with international conventions seeking to identify individual chromo-
somes through comparison with their peers by size, location of centromere,
presence of satellite bodies and other features fuzzily visible under the light
microscope. It was, to say the least, an inexact science. Dermatoglyphic
evidence supported the reading of chromosomes by helping to confirm or
deny the presence of a certain clinical syndrome, thus confirming the
identity of the chromosome involved in the anomaly, and/or suggesting the
presence of mosaicism.25
Yet the retention of dermatoglyphic technique was more than simply
technical. Dermatoglyphic analysis also sanctioned the involvement of
human genetics workers as experts. Human geneticists had, for the most
part, entered the new era of cytogenetic discovery without cytogenetic
expertise. Such technical expertise was generally held by colleagues from
other disciplines, namely pathology or animal or plant cytology. Dermato-
glyphic analysis thus enrolled human geneticists as experts in the newly
evolving network of human and medical cytogenetics. Finally, the retention
of dermatoglyphic technique and human genetics expertise within the new

chromosomal research network brought the old disease identity of ‘Mon-

golism’ into alignment with emerging disease identities, encouraging the
interpretation of new chromosome syndromes as, in some ways,
analogous.
Case Study: Making New Syndromes, Making the ‘Autosome

Anomalies’
In April 1960, the University of Wisconsin, Madison-based, Klaus Patau, a
cytologist, and his colleagues announced a new chromosomal anomaly in
the pages of The Lancet. They reported on one infant with multiple
congenital anomalies who had an extra chromosome in the ‘D’ group
(Patau et al., 1960). The identification of this phenomenon relied heavily
on its fraternity with Mongolism. Yet, at the same time, its identity as a
distinct phenomenon relied on this fraternity not being too close.
The proximity of this case to Mongolism was explicit. Noting that
‘only one type of autosomal trisomic has been reported to date’ – Mongol-
ism – Patau and his colleagues wrote that ‘It was to be expected that other
autosomal trisomics, if they should be at all viable, would also display
multiple congenital disturbances’ (Patau et al., 1960: 790). The fraternity
of this phenomenon with Mongolism, in its severity and congenital visibil-
ity, justified the initial investigation of cases. Yet having found only one
instance of this apparently new phenomenon through its close association
with Mongolism, Patau and his colleagues had to be careful to protect their
case from the diagnosis of Mongolism. They reported (ibid.: 790):
Particular attention was paid to the question whether the patient might be
an atypical mongoloid. She does have simian creases in the palms of both
hands, but in every other aspect of the physical evaluation she did not
appear mongoloid.
At a time when the identification of individual chromosomes was difficult

and contested, corroborating evidence for this stance was exceedingly
useful. For this, Klaus Patau, the plant cytologist, was able to draw on the
expertise of Irene Uchida, a human geneticist. Uchida was a student of a
Canadian research tradition. Along with a large proportion of the post-
World War II generation of Canadian human and medical geneticists,
Uchida had been trained in Toronto by Norma Ford Walker, who had built
a research school around dermatoglyphic technology, beginning in the
1930s (Miller, 2000). Re-trained by Patau in cytogenetic technique in
1959 as a postdoctoral fellow, Uchida shared her dermatoglyphic expertise
with his team to help make sense of the D and other chromosomal
conditions, drawing on the continuities implied in the language of
‘Mongolism’.26
Using the dermatoglyphic index developed by Norma Ford Walker for
the diagnosis of Mongolism, Patau was able to report that ‘the skin
patterns of the hands and feet render mongolism very unlikely. We are
obliged to Dr Irene A. Uchida for a detailed analysis of these patterns’. The

index of dermal patterns, Patau and his colleagues reported, ‘in conjunc-
tion with the clinical picture, justifies the conclusion that the patient is not
a mongoloid. It will be seen that the cytological analysis’, they added,
‘leads to the same conclusion’ (Patau et al., 1960: 791).
Patau’s team in Madison were the discoverers of what came to be
known as ‘D syndrome’ (or ‘Trisomy 13’). They were also among the first
to report cases of what came to be known as the ‘E syndrome’. Indeed,
they saw themselves as having some priority, having been the first to report
correctly on the specific chromosome involved (chromosome 18, rather
than 17, as first suggested by a team in England).27 In the detailed report
of their first two cases of E syndrome, also in 1960, Patau and his
colleagues discussed the skin patterns in one infant – once again drawing
on Uchida’s expertise and, once again, using Ford Walker’s dermal index to
distinguish this syndrome from that of Mongolism. ‘In an effort to exclude
the possibility of Mongolism’, they wrote, ‘skin patterns were studied’.
Calculating Ford Walker’s diagnostic index in this case they reported that
their case was ‘well within the normal range and outside that of Mon-
goloids’ (Smith et al., 1960: 341–42).
In these initial reports, Patau drew on Uchida’s expertise with dermal
patterns simply to confirm that these few cases could be distinguished from
a syndrome with which they were so closely allied. But Uchida and Patau
also sought to extend the use of dermal patterns beyond Ford Walker’s
index. By identifying distinctive dermal patterns in what were, in fact, a
few cases of congenital malformations, Patau and Uchida worked to
support the argument that these cases constituted distinctive syndromes.
Soon after Patau published his report on the D syndrome in The
Lancet, Uchida reported to him on how ‘remarkably similar the patterns
are within each syndrome’.28 Patau wrote back, ‘You can imagine how
pleased I was that the hunch about hand and foot prints seemed to work
out so well. This must be persued [sic]! . . . What pleases me about this’, he
added, ‘is that it suggests that there may be distinct features of prints that
are always present in trisomics of the same type . . .’.29 Uchida and Patau
followed up these studies as more cases became available for review, and
published a paper on the dermal patterns in the D and E syndromes in
1962 (Uchida et al., 1962).30 This work helped to confirm the identity of D
and E syndromes as distinct syndromes and to cement their fraternity with
Mongolism as instances of a new meta-disease category – the autosome
anomalies.
The ‘autosome anomalies’ were united through several technical fea-
tures. Like Mongolism, the D and E syndromes involved the presence in
triplicate of one of the 44 human autosomes (or non-sex chromosomes).
Moreover, these syndromes demonstrated distinctive dermal patterns, and
came to the attention of researchers in similar institutional settings (as
congenital anomalies). In addition to these technical characteristics, the
fraternity between Mongolism and the D and E syndromes was analogical.
They were understood as being similarly ‘severe’. This severity was, on the
one hand, a function of mental retardation, which, without reference to

degree, seemed to be understood as inherently severe.31 On the other

hand, this severity was a function of what appeared to be a naturally high
lethality – approximately 50% in the first year of life for Mongolism, and
much higher for the D and E syndromes.32 Finally, the severity of these
conditions was supported by the stigmatizing language of ‘Mongolism’.
The ‘severity’ of defect in the Mongol was paralleled with the ‘severity’
of defect in other ‘autosome anomalies’, which tended to result in early
infant death, confirming the association between these distinct phenomena
as members of a larger category of disease. This categorization was further
confirmed in being distinguished from the corollary category of ‘sex
chromosome anomalies’ – a parallel and concurrent category of disease
that was clinically more benign but sexually more suspect. The existence of
these two categories enforced internal homogeneity and confirmed a
hierarchy of severity – with the sex chromosome anomalies being less
severe than the autosome anomalies.33 The fraternity between ‘Mongolism’
and the D and E syndromes both constituted and supported an emerging
meta-category of cytogenetic disease: the autosome anomalies.
Though Patau and Uchida had collaborated quite closely in the early
1960s, their interests soon diverged. Patau became interested in dermato-
glyphics principally for their potential for mapping genes on chromosomes
– he hoped that specific dermal patterns might be dependent on a single
locus. And he quickly came to deny his earlier dependence on this
technology in differential diagnosis, insisting that dermal patterns had
played little rôle in constituting a few rare cases of congenital malformation
as distinct and new chromosomal syndromes. As a cytogeneticist whose
closest collaborator was a paediatrician, he soon came to assert that clinical
signs alone might be diagnostic of syndromes which were defined princi-
pally by chromosomal evidence.
Uchida, a human geneticist, whose unique contribution to these
discoveries was the application of dermatoglyphic analysis, was less willing
to dismiss the significance of dermal patterns in the initial constitution of
the new autosomal trisomy syndromes. This essentially disciplinary dis-
agreement came to a head over a joint abstract drafted by Uchida with
Patau and his Madison colleagues as co-authors. Dermal configurations,
Uchida wrote in this abstract, were initially performed in order to ‘rule out
the possibility of mongolism’.34 Patau, perhaps surprisingly in light of his
earlier articles, objected strenuously to this characterization. He wrote:
I never thought of the need ‘to rule out the possibility of mongolism’ by
means of dermal patterns. Once the quite different clinical patterns of the
two syndromes had been established to be associated with the presence of
a quite different extra chromosome, mongolism could hardly be con-
sidered a ‘possibility’ anymore and it sounds strange to encounter this
word now.35
But on this point Uchida refused to budge. She replied:

I must take issue with you regarding the ‘possibility of mongolism’. I guess
I didn’t make it clear enough but I was merely trying to be truthful. The

original reason for printing these children was Dave Smith’s [the clinician
cooperating with Patau in this research] request that mongolism be ruled
out. It wasn’t until after both D’s and 3 E’s had been printed that the
purpose changed.36
Unlike Patau, Uchida was convinced of the independent value of dermato-

glyphic analysis, and with her Canadian colleagues she pursued a compre-
hensive investigation of dermal patterns in diverse populations of persons
with chromosomal anomalies (Miller, 2000). She also worked to advocate
for the value of dermal analysis in cytogenetic studies. As Uchida and
Hubert Soltan (a Canadian colleague) wrote in 1963:
For many years, dermatoglyphics has been accepted as a useful tool in the
differentiation between monozygotic and dizygotic twins. Yet until rela-
tively recently its use as an aid in the diagnosis of mongolism was greeted
by many with skepticism. With the rapid development of human cytoge-
netics and the discovery of chromosomal aberrations in man, the value of
dermatoglyphics in clinical medicine has been proved. (Uchida & Soltan,
1963: 409)
Uchida did not dispute the pre-eminent value of the new technology of
chromosomal analysis. In the article quoted from above, she and her co-
author wrote that:
Since the discovery of trisomy as the cause of mongolism, dermatoglyphic
analyses have given way to chromosomal investigations as a diagnostic
procedure. Nevertheless dermatoglyphics remains important for quick
screening of infants suspected of trisomy and for confirmation of clinical
diagnosis when chromosomal investigations are not possible. (ibid.: 421)
Uchida here insisted upon the value of dermal analysis as an accessible

diagnostic tool for those clinicians for whom direct chromosomal analysis
was unavailable. She had also, with Patau, insisted on the recognition that
dermal analysis had played a definitive rôle in making sense of new
syndromes, and in confirming the logic of the disease category ‘autosome
anomalies’.
In making claims about dermatoglyphics, and in their persistent use of
the language of Mongolism, Uchida and her colleagues did more than
preserve an older, and seemingly outdated technology and terminology.
They integrated older practices into a new network of disease, discipline
and technology across the divide of 1959. This re-aligned network was
crucial to the constitution of new and identifiably distinct chromosomal
syndromes, and in making sense of a set of chromosomal anomalies as the
‘autosome anomalies’. Moreover, this network helped to confirm the
independent expertise of human geneticists who had, for the most part,
entered the age of cytogenetic discovery without cytogenetic expertise.
Conclusion
The group of scientists who, in 1961, called on their peers to cease using
the language of Mongolism were suggesting that developments in science

and technology, namely the emergence of medical cytogenetics, had rup-

tured older interpretive practices, and had necessarily displaced a morally
repugnant term. They were expressing surprise at the existence of con-
tinuities in practice and interpretation in the face of a breakthrough
technology. This paper suggests that their surprise was unwarranted.
Though admittedly a breakthrough technology, cytogenetics did not create
a clear rupture in the interpretation of disease. The term ‘Mongolism’
continued in use, I argue, because it was part of a network of disease,
discipline and technology that continued to have scientific salience. The
older network was of practical and metaphoric value in the work of
scientific discovery as the era of medical cytogenetics emerged. In partic-
ular, the old technology of dermatoglyphics, and the workers who wielded
it, played an important rôle in the interpretation and differential diagnosis
of newly-emerging chromosomal diseases, and the consolidation of the
meta-category of the ‘autosomal anomalies’.
An important contribution of this paper is its demonstration of the
persistent value of a diagnostic and interpretive technology, dermato-
glyphics, that – at first blush – seems hopelessly outdated. The persistence
of dermatoglyphics points to the non-ascendance of new technologies,
even where these new technologies usher in new scientific eras. Instead of
being replaced, older technologies may linger, providing supplementary
technical resources. Moreover, by failing to be replaced, these older
technologies provide a wedge for the continuity of other elements of the
network within which they operate – in this case, older forms of disease
interpretation, and older forms of disciplinary expertise.
The continuing salience of these older resources also highlights histor-
ical inattention to apparently ‘marginal’ technologies. Human genetics
prefers to anchor its history in decisive technologies, those validated by
their association with basic genetics, and detached from the messy com-
plexities of a science ultimately devoted to the human animal and em-
bedded in the social and political complexities of human endeavour.37 This
preference leads to impoverished histories which threaten to narrow the
scope of what human genetics can be, by narrowing our vision of what is
has been. Dermatoglyphic analysis, and other ‘marginal’ tools as yet
unexplored, suggest, to the contrary, that human genetics has been a
broader science than is currently acknowledged.
Notes
I would like to acknowledge the financial support of the Canadian Social Sciences and
Humanities Research Foundation (SSHRF), and the Canadian Health Services Research
Foundation (CHSRF).
1. Signatories included such key figures as Jérôme Lejeune, Charles Ford, Lionel Penrose
and Curt Stern.
2. There had long been genetical research which had disputed an association between
Mongolism and racial ‘devolution’: see Kevles (1997): 160–62.
3. The papers of the American Society of Human Genetics are quite limited. A review of
the editors’ papers in the collection reveals no discussion of any decision to cease use of
the term. See: Papers of the American Society of Human Genetics, Ms. Coll. #49,

Library of the American Philosophical Society, Manuscript Collections, Philadelphia,

PA.
4. See: MeSH Heading: Down Syndrome, National Library of Medicine – Medical
Subject Headings: < http://www.nlm.nih.gov/cgi/mesh/Mbrowser.html > , accessed 27
March 2001.
5. Adele Clarke and Monica Casper (1996) make the argument about the continuing
salience of older technoscientific practices with respect to classification systems. They
note that the old system ‘does not disappear’ (ibid.: 613, emphasis in original); they
note further that different systems appeal to different professional constituencies.
6. A more complete explanation would require investigation of a range of actors beyond
those reviewed here – notably, persons with Down’s syndrome, their families, disability-
rights activists, and related changes in lay language and interpretation.
7. The Chambers Dictionary defines ‘dermatoglyphics’ thus: ‘(n pl) skin patterns, esp of the
skin on the under-surfaces of the hands and feet; (n sing) the science of the study of
skin patterns’: The Chambers Dictionary (Edinburgh: Chambers Harrap, 1993): 454.
8. Sociologist Joan Fujimura (1987) offers the concept of the ‘theory methodology
package’ to highlight the importance of the alignment of materials, methods and
theories in forming coherent research approaches. ‘Do-able’ problems, Fujimura
suggests, are those for which materials, methods and theories are aligned with social
worlds. Specifically, do-able problems connect different levels of work organization –
the experiment or study, the research environment (for her, the laboratory) and the
broader cultural, political and social environments. Historian Jan Sapp (1987: xvi)
proposes the phrase ‘technique-ladenness of observations’ to describe a similar process
by which ‘scientific concepts become bound to phenomena studied by certain
techniques’.
9. My argument about the continued use of the term ‘mongolism’ does not explore or
explain why individuals failed to contest this term. I am arguing, simply, that in the
absence of a clear ‘rupture’ there was no necessity for a name change, and much
habitual practice to encourage continued use.
10. As Diane Paul has argued, the institutional supports for human and medical genetics
included genetic counselling clinics, eugenic institutions, and birth control
organizations: see Paul (1998).
11. Daniel Kevles is the chief historian of the post-war science of human and medical
genetics. His account clearly suggests the determining power of scientific and technical
developments: see Kevles (1997), Chapters 15 & 16.
12. For discussions and examples of actor-network theory, see Latour (1987), Law &
Hassard (1999) and Callon (1986).
13. For examples of social-worlds theory, see Clarke & Fujimura (1992), Clarke (1990)
and Fujimura (1996).
14. There is also a tendency, as Monica Casper and Adele Clarke (1998) note, to ignore
‘simple’ technologies. This is not always true. Jan Sapp (1990), in particular, has
specialized in iconoclastic topics.
15. I am indebted to one of this journal’s anonymous reviewers for pointing out that this
story is concerned with ‘good enough’ science. On ‘good enough’ science, see Casper
& Clarke (1998).
16. Kevles remarks that: ‘Postwar French austerity made the task of research less
straightforward: Lejeune had no laboratory, no microscope, only a single room without
running water. Pondering what experimental research he might pursue under those
conditions, he decided to concentrate on the palm prints of Down’s victims’ (Kevles,
1997: 245).
17. On Penrose studying Down’s syndrome, see Kevles (1997: 160–62). See also: Lionel
Penrose (1954, 1948, 1967a, 1967b, 1968).
18. Haldane argued repeatedly that students of human heredity had to address both nature
and nurture in their work. He sometimes made this argument in tabular form –
presenting data on the prevalence of polydactyly in four distinct breeding lines of
guinea pig measured, on the vertical axis, against maternal age. ‘This table is very

instructive as a warning against a one-sided interpretation of human data’, Haldane

wrote in his important 1942 text, New Paths in Genetics; ‘The extreme eugenist will
read it horizontally, the extreme environmentalist vertically. The biologist’, he added,
‘will read it both horizontally and vertically’ (Haldane, 1942: 119). Haldane makes the
same argument in his more polemical book, Heredity and Politics (1938): 33–34.
19. Historians have suggested that human genetics was a lesser science in the first half of
the 20th century in North America, far less exalted than its sister science of basic
genetics (Kevles, 1997; Lindee, 2002). This was due, in part, to the ‘laboratory bias’ of
American academic biology, the concern to be independent of service rôles towards
medicine or agriculture, and to avoid study of the complex phenotypic characteristics
that applied sciences had to address. See: Kay (1993), Pauly (1984), Kimmelman
(1992) and Rader (1998). I also attribute this ‘lesser’ status to historical bias and
neglect: see Miller (2002).
20. Tracy is here citing George Draper’s definition of ‘constitution’.
21. Daniel Kevles, who served as a reviewer for this paper, pointed out an apparent
contradiction in the use of dermal analysis to both support broad aetiological concerns
(suggesting the sensitivity of these patterns to environmental and genetic forces) and to
diagnose twin zygosity (therefore suggesting the immunity of these patterns to
environmental forces). In fact, dermatoglyphics were used in both of these ways. The
contradiction resolves only when we accept that these patterns demonstrated
continuous, rather than dichotomous (or discrete) variation, and that their
interpretation was nuanced. Thus, Norma Ford Walker could use dermal patterns both
to diagnose identical zygosity in two patients, and to illuminate a developmental
disturbance in one of the twins which, she hypothesized, was partially responsible for
the patient’s death from surgery. See: Miller (2002).
22. Historian of science, Gerald Geison (1981: 23), defines the ‘research school’ as ‘small
groups of mature scientists pursuing a reasonably coherent program of research side-
by-side with advanced students in the same institutional context and engaging in direct,
continuous social and intellectual interaction’. See also Geison (1993).
23. M. Susan Lindee, personal communication (8 May 1998).
24. These are among the subtitles in Muller’s (1949: 2, 7) preface to the new journal.
25. The heuristic and practical rôle of the ‘old system’ of dermal analysis by comparison
with the new and ‘official’ system of cytogenetic analysis parallels the relative rôles of
old and new classificatory systems analysed by Clarke & Casper (1997).
26. I am indebted to one anonymous reviewer of this paper for pointing out that the
complementary contributions of clinical and basic researchers are a classic case of
triangulation (Star, 1986).
27. Patau and his colleagues briefly mentioned two cases with an extra chromosome in the
E group in their report on the D syndrome, but credit for the initial identification of
the ‘E’ syndrome is generally given to Edwards et al. (1960).
28. Irene Uchida, letter to Klaus Patau, 13 April 1960 (Archives of the University of
Wisconsin, Madison, Klaus Patau Papers, Gen Files: Medical Genetics, 12/7, Box 2,
File: Uchida 1960–1971); hereinafter, ‘Patau Papers’.
29. Klaus Patau, letter to Irene Uchida, 20 May 1960 (Patau Papers).
30. This research was first presented in 1961. Uchida cited it as: I.A. Uchida, K. Patau
and D.W. Smith, presented at 31st annual meeting of Society for Pediatric Research
(Atlantic City, New Jersey, 4–5 May 1961).
31. In this there is some continuity with the eugenics movement. Diane Paul (1995: 122)
has argued that mental defect was considered a far more egregious problem than
physical defect.
32. This ‘natural’ lethality has declined considerably in recent decades, due to more
consistent treatment of infections and heart disease. Paradoxically, while the newborn
incidence of Down’s syndrome is declining in some parts of the world, as a function of
prenatal diagnosis and selective abortion, the population incidence of Down’s is
increasing because of longer life expectancy and, to some degree, later maternal age.

See: Janicki et al. (1999); O’Leary et al. (1996); Nicholson & Alberman (1992); and
McGrother & Marshall (1990).
33. See, for example: M.L.B. (Editorial), ‘Cytogenetics in Mental Deficiency Research’,
Canadian Medical Association Journal 83 (26 November 1960): 1164; P.E.C. (Editorial),
‘Identification and Nomenclature of Human Chromosomes’, ibid. 84 (17 June 1961):
1391; Miller (2000), Chapters 3 & 4.
34. Irene Uchida, Klaus Patau and David Smith, ‘The Dermal Patterns of the New
Autosomal Trisomy Syndromes’, draft Abstract (Patau Papers).
35. Klaus Patau, letter to Irene Uchida, 22 September 1960 (Patau Papers).
36. Irene Uchida, letter to Klaus Patau, 27 September 1960 (Patau Papers).
37. In a set of ‘Personal Reflections on the History of Medical Genetics in the US’, Barton
Childs, one of the acknowledged pioneers of American medical genetics, made this
argument explicit. ‘The history of medical genetics’, he wrote, ‘is conditioned by the
history of the gene. When the gene was defined as a statistical entity medicine took
little notice. Medical interest increased when the physical basis of heredity was
established, but mainly among those who were interested in rare anomalies. It was in
the 1950s that medical genetics began in earnest, following the one gene/one enzyme,
functional definition’: Abstract of talk presented at the New York Academy of Medicine
(21 April 1999).
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of 18 and D1 Trisomics’, American Journal of Human Genetics 14/4 (December):
345–52.
Wailoo (1997) Keith Wailoo, Drawing Blood: Technology and Disease Identity in Twentieth-
Century America (Baltimore, MD: Johns Hopkins University Press).
Fiona Miller is a social scientist specializing in the policy analysis of health

technologies. She is currently an Assistant Professor at the Centre for Health
Economics and Policy Analysis, in the Department of Clinical Epidemiology
and Biostatistics at McMaster University. Her empirical research is primarily
concerned with the social organization of new and emerging health
technologies, with a focus on genetic and molecular medicine.
Address: Department of Clinical Epidemiology and Biostatistics Member,
Centre for Health Economics and Policy Analysis, McMaster University, HSC-
3H1A, 1200 Main Street West, Hamilton, Ontario, Canada L8N 3Z5; fax: +1
905 546 5211; email: millerf@mcmaster.ca


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Dermatoglyphics and the Persistence of `Mongolism': Networks of

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Keywords cytogenetics, Down’s syndrome, genetics, science, technology and culture

Dermatoglyphics and the Persistence of

In 1961, a prestigious group of scientists published a joint statement in the