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Volumn 41, Issue 2, 2011, Pages 203-226

Genomic designation: How genetics can delineate new, phenotypically diffuse medical categories

Author keywords

autism; biosociality; geneticization; genetics; genomic designation; genomics; identity; molecular gaze

Indexed keywords

ARTICLE; AUTISM; CHILD; CHROMOSOME 22; CHROMOSOME DELETION; CHROMOSOME DISORDER; DOWN SYNDROME; GENETICS; HUMAN; HUMAN GENOME; SOCIOLOGY; SYNDROME;

EID: 79953119709     PISSN: 03063127     EISSN: 14603659     Source Type: Journal    
DOI: 10.1177/0306312710391923     Document Type: Article
Times cited : (52)

References (89)
  • 2
    • 42349095075 scopus 로고    scopus 로고
    • Advances in autism genetics: On the threshold of a new neurobiology
    • Abrahams BS and Geschwind DH (2008) Advances in autism genetics: On the threshold of a new neurobiology. Nature Reviews Genetics 9(5): 341-355.
    • (2008) Nature Reviews Genetics , vol.9 , Issue.5 , pp. 341-355
    • Abrahams, B.S.1    Geschwind, D.H.2
  • 3
  • 4
    • 0002930273 scopus 로고
    • Autistic psychopathy' in childhood
    • ([]) (U Frith, trans.). In: Frith U (ed), Cambridge: Cambridge University Press
    • Asperger H. (1991 [1944]) 'Autistic psychopathy' in childhood (U Frith, trans.). In: Frith U (ed), Autism and Asperger Syndrome. Cambridge: Cambridge University Press, 37-92.
    • (1991) Autism and Asperger Syndrome , pp. 37-92
    • Asperger, H.1
  • 5
    • 77956998380 scopus 로고    scopus 로고
    • Newborn screening programs: Should 22q11 deletion syndrome be added
    • Bales AM, Zaleski CA and McPherson EW (2010) Newborn screening programs: Should 22q11 deletion syndrome be added? Genetics in Medicine 12: 135-144.
    • (2010) Genetics in Medicine , vol.12 , pp. 135-144
    • Bales, A.M.1    Zaleski, C.A.2    McPherson, E.W.3
  • 6
    • 34548339637 scopus 로고    scopus 로고
    • Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2
    • Ballif BC, Hornor SA, Jenkins E., Madan-Khetarpal S., Surti U.,et al.(2007) Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nature Genetics 39(9): 1071-1073.
    • (2007) Nature Genetics , vol.39 , Issue.9 , pp. 1071-1073
    • Ballif, B.C.1    Hornor, S.A.2    Jenkins, E.3    Madan-Khetarpal, S.4    Surti, U.5
  • 7
    • 79953071988 scopus 로고    scopus 로고
    • Genetics and Social Structure
    • Bearman PS, Martin M, and Shostak S (eds)
    • Bearman PS, Martin M, and Shostak S (eds)(2008) Genetics and Social Structure. Special issue of American Journal of Sociology 114(S1).
    • (2008) Special Issue of American Journal of Sociology , vol.114 , Issue.S1
  • 9
    • 0037791817 scopus 로고    scopus 로고
    • Research 'in the wild' and the shaping of new social identities
    • Callon M. and Rabeharisoa V. (2003) Research 'in the wild' and the shaping of new social identities. Technology in Society 25(2): 193-204.
    • (2003) Technology in Society , vol.25 , Issue.2 , pp. 193-204
    • Callon, M.1    Rabeharisoa, V.2
  • 10
    • 1642414344 scopus 로고    scopus 로고
    • Gino's lesson on humanity: Genetics, mutual entanglements and the sociologist's role
    • Callon M. and Rabeharisoa V. (2004) Gino's lesson on humanity: Genetics, mutual entanglements and the sociologist's role. Economy and Society 33(1): 1-27.
    • (2004) Economy and Society , vol.33 , Issue.1 , pp. 1-27
    • Callon, M.1    Rabeharisoa, V.2
  • 14
    • 0014185681 scopus 로고
    • Une nouvelle observation d'aberration chromosome 18p-
    • De Grouchy J., Rossier A. and Joab N. (1967) Une nouvelle observation d'aberration chromosome 18p-. Annales de génétique 10(3): 221-223.
    • (1967) Annales De Génétique , vol.10 , Issue.3 , pp. 221-223
    • de Grouchy, J.1    Rossier, A.2    Joab, N.3
  • 15
    • 0019511103 scopus 로고
    • A deletion in chromosome 22 can cause DiGeorge syndrome
    • De la
    • De laChapelle A., Herva R., Koivisto M. and Aula P. (1981) A deletion in chromosome 22 can cause DiGeorge syndrome. Human Genetics 57(3): 253-256.
    • (1981) Human Genetics , vol.57 , Issue.3 , pp. 253-256
    • Chapelle, A.1    Herva, R.2    Koivisto, M.3    Aula, P.4
  • 17
    • 0000922691 scopus 로고
    • Observations on an ethnic classification of idiots
    • Down JLH (1866) Observations on an ethnic classification of idiots. London Hospital Reports 3: 259-262.
    • (1866) London Hospital Reports , vol.3 , pp. 259-262
    • Down, J.L.H.1
  • 22
    • 49749223893 scopus 로고
    • A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's Syndrome)
    • Ford CE, Jones KW, Polani PE, De Almeida JC, and Briggs JH (1959) A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's Syndrome). Lancet 273: 711-713.
    • (1959) Lancet , vol.273 , pp. 711-713
    • Ford, C.E.1    Jones, K.W.2    Polani, P.E.3    de Almeida, J.C.4    Briggs, J.H.5
  • 25
    • 1442284912 scopus 로고    scopus 로고
    • Re-thinking nature-culture: Anthropology and the new genetics
    • Franklin S. (2003) Re-thinking nature-culture: Anthropology and the new genetics. Anthropological Theory 3(1): 65-85.
    • (2003) Anthropological Theory , vol.3 , Issue.1 , pp. 65-85
    • Franklin, S.1
  • 26
    • 58749099948 scopus 로고    scopus 로고
    • Genetics and the social science explanation of individual outcomes
    • Freese J. (2009) Genetics and the social science explanation of individual outcomes. American Journal of Sociology 114(S1): S1-S35.
    • (2009) American Journal of Sociology , vol.114 , Issue.S1
    • Freese, J.1
  • 28
    • 52949152938 scopus 로고    scopus 로고
    • Introduction: Race, genetics and disease: Questions of evidence, matters of consequence
    • Fujimura JH, Duster T., and Rajagopalan R. (2008) Introduction: Race, genetics and disease: Questions of evidence, matters of consequence. Social Studies of Science 38(5): 643-656.
    • (2008) Social Studies of Science , vol.38 , Issue.5 , pp. 643-656
    • Fujimura, J.H.1    Duster, T.2    Rajagopalan, R.3
  • 33
    • 0002489417 scopus 로고
    • The looping effect of human kinds
    • In Sperber D, Premack D and Premack A (eds), Oxford: Oxford University Press
    • Hacking I. (1995b) The looping effect of human kinds. In Sperber D, Premack D and Premack A (eds), Causal Cognition: An Interdisciplinary Approach. Oxford: Oxford University Press, 351-383.
    • (1995) Causal Cognition: An Interdisciplinary Approach , pp. 351-383
    • Hacking, I.1
  • 34
    • 33750735014 scopus 로고    scopus 로고
    • Genetics, biosocial groups and the future of identity
    • Hacking I. (2006) Genetics, biosocial groups and the future of identity. Daedalus 135(4): 81-95.
    • (2006) Daedalus , vol.135 , Issue.4 , pp. 81-95
    • Hacking, I.1
  • 38
    • 0035751978 scopus 로고    scopus 로고
    • Schizophrenia and the narrative of enlightened geneticization
    • Hedgecoe A. (2001) Schizophrenia and the narrative of enlightened geneticization. Social Studies of Science 31(6): 875-911.
    • (2001) Social Studies of Science , vol.31 , Issue.6 , pp. 875-911
    • Hedgecoe, A.1
  • 39
    • 33747686159 scopus 로고
    • A case of human intersexuality having a possible XXY sex-determining mechanism
    • Jacobs PA and Strong JA (1959) A case of human intersexuality having a possible XXY sex-determining mechanism. Nature 183(4657): 302-303.
    • (1959) Nature , vol.183 , Issue.4657 , pp. 302-303
    • Jacobs, P.A.1    Strong, J.A.2
  • 40
    • 0000984981 scopus 로고
    • Autistic disturbances of affective contact
    • Kanner L. (1943) Autistic disturbances of affective contact. Nervous Child 2: 217-50.
    • (1943) Nervous Child , vol.2 , pp. 217-250
    • Kanner, L.1
  • 41
    • 70349856176 scopus 로고    scopus 로고
    • Diagnostic change and the increased prevalence of autism
    • King M. and Bearman P. (2009) Diagnostic change and the increased prevalence of autism. International Journal of Epidemiology 38(5): 1224-1238.
    • (2009) International Journal of Epidemiology , vol.38 , Issue.5 , pp. 1224-1238
    • King, M.1    Bearman, P.2
  • 42
    • 0004178922 scopus 로고
    • Cambridge, MA: Harvard University Press
    • Kripke S. (1981) Naming and Necessity. Cambridge, MA: Harvard University Press.
    • (1981) Naming and Necessity
    • Kripke, S.1
  • 43
    • 50549181599 scopus 로고
    • The Mongol chromosome and some others
    • Lancet (1960) The Mongol chromosome and some others. Lancet 276(7159): 1068-1069.
    • (1960) Lancet , vol.276 , Issue.7159 , pp. 1068-1069
    • Lancet1
  • 45
    • 54049142123 scopus 로고    scopus 로고
    • Cytogenetic technology - genotype and phenotype
    • Ledbetter DH (2008) Cytogenetic technology - genotype and phenotype. New England Journal of Medicine 359:1728-1730.
    • (2008) New England Journal of Medicine , vol.359 , pp. 1728-1730
    • Ledbetter, D.H.1
  • 50
    • 0026299998 scopus 로고
    • The geneticization of health and illness: Implications for social practice
    • Lippman A. (1991) The geneticization of health and illness: Implications for social practice. Endocrinologie 29(1-2): 85-90.
    • (1991) Endocrinologie , vol.29 , Issue.1-2 , pp. 85-90
    • Lippman, A.1
  • 51
    • 33749685425 scopus 로고    scopus 로고
    • Eclipse of the gene and the return of divination
    • Lock M. (2005) Eclipse of the gene and the return of divination. Current Anthropology 46(s5): S47-S70.
    • (2005) Current Anthropology , vol.46 , Issue.s5
    • Lock, M.1
  • 52
    • 34447521460 scopus 로고    scopus 로고
    • Human disease classification in the postgenomic era: A complex systems approach to human pathobiology
    • Loscalzo J., Kohane I., and Barabasi A-L. (2007) Human disease classification in the postgenomic era: A complex systems approach to human pathobiology. Molecular Systems Biology 3: 124.
    • (2007) Molecular Systems Biology , vol.3 , pp. 124
    • Loscalzo, J.1    Kohane, I.2    Barabasi, A.-L.3
  • 53
    • 3442888530 scopus 로고    scopus 로고
    • Terminal 22q deletion syndrome: A newly recognized cause of speech and language disability in the autism spectrum
    • Manning MA, Cassidy SB, Clericuzio C., Cherry AM, Schwartz S.,et al.(2004) Terminal 22q deletion syndrome: A newly recognized cause of speech and language disability in the autism spectrum. Pediatrics 114(2): 451-457.
    • (2004) Pediatrics , vol.114 , Issue.2 , pp. 451-457
    • Manning, M.A.1    Cassidy, S.B.2    Clericuzio, C.3    Cherry, A.M.4    Schwartz, S.5
  • 56
    • 39049137050 scopus 로고    scopus 로고
    • FISH diagnosis of 22q11.2 deletion syndrome
    • Miller KA (2008) FISH diagnosis of 22q11.2 deletion syndrome. Newborn and Infant Nursing Reviews 8(1): e11-e19.
    • (2008) Newborn and Infant Nursing Reviews , vol.8 , Issue.1
    • Miller, K.A.1
  • 57
    • 47249088331 scopus 로고    scopus 로고
    • Identifying autism loci and genes by tracing recent shared ancestry
    • Morrow EM, Yoo S.-Y, Flavell SW, Kim T.-K, Lin Y.,et al.(2008) Identifying autism loci and genes by tracing recent shared ancestry. Science 321(5886): 218-223.
    • (2008) Science , vol.321 , Issue.5886 , pp. 218-223
    • Morrow, E.M.1    Yoo, S.2    Flavell, S.W.3    Kim, T.4    Lin, Y.5
  • 58
    • 52949133450 scopus 로고    scopus 로고
    • Bio science: Genetic ancestry testing and the pursuit of African ancestry
    • Nelson A. (2008) Bio science: Genetic ancestry testing and the pursuit of African ancestry. Social Studies of Science 38(5): 759-783.
    • (2008) Social Studies of Science , vol.38 , Issue.5 , pp. 759-783
    • Nelson, A.1
  • 60
    • 33644845814 scopus 로고    scopus 로고
    • Geneticization of deviant behavior and consequences for stigma: The case of mental illness
    • Phelan JC (2005) Geneticization of deviant behavior and consequences for stigma: The case of mental illness. Journal of Health and Social Behavior 46(4): 307-322.
    • (2005) Journal of Health and Social Behavior , vol.46 , Issue.4 , pp. 307-322
    • Phelan, J.C.1
  • 65
    • 84856652239 scopus 로고    scopus 로고
    • Phelan-McDermid Syndrome Foundation, Available at
    • Phelan-McDermid Syndrome Foundation (2010a) SfN 2010 Stipend Award Announcement. Available at: http://22q13.org/j15/.
    • (2010) SfN 2010 Stipend Award Announcement
  • 66
    • 84856639718 scopus 로고    scopus 로고
    • Phelan-McDermid Syndrome Foundation, Available at
    • Phelan-McDermid Syndrome Foundation (2010b) Behavioral. Available at: http://22q13.org/j15/index.php?option=com_content&view=article&id=61:behavioral&catid=56:characteristics&Itemid=71.
    • (2010) Behavioral
  • 67
    • 77954657070 scopus 로고    scopus 로고
    • Functional impact of global rare copy number variation in autism spectrum disorders
    • (15 July): Available at
    • Pinto D., Pagnamenta AT, Klei L., Anney R., Merico D.,et al.(2010) Functional impact of global rare copy number variation in autism spectrum disorders. Nature 466 (15 July): 368-372. Available at: http://dx.doi.org/10.1038/nature09146.
    • (2010) Nature , vol.466 , pp. 368-372
    • Pinto, D.1    Pagnamenta, A.T.2    Klei, L.3    Anney, R.4    Merico, D.5
  • 68
    • 0033998542 scopus 로고    scopus 로고
    • Genetic evaluation of pervasive developmental disorders: The terminal 22q13 deletion syndrome may represent a recognizable phenotype
    • Prasad C., Prasad AN, Chodirker BN, Lee C., Dawson AK,et al.(2000) Genetic evaluation of pervasive developmental disorders: The terminal 22q13 deletion syndrome may represent a recognizable phenotype. Clinical Genetics 57(2): 103-109.
    • (2000) Clinical Genetics , vol.57 , Issue.2 , pp. 103-109
    • Prasad, C.1    Prasad, A.N.2    Chodirker, B.N.3    Lee, C.4    Dawson, A.K.5
  • 69
    • 38849168394 scopus 로고    scopus 로고
    • Social construction and medicalization: Behavioral genetics in context
    • In: Parens E, Chapman AR, and Press N (eds), Baltimore MD: Johns Hopkins University Press
    • Press N. (2006) Social construction and medicalization: Behavioral genetics in context. In: Parens E, Chapman AR, and Press N (eds) Wrestling with Behavioral Genetics: Science, Ethics, and Public Conversation. Baltimore MD: Johns Hopkins University Press, 131-149.
    • (2006) Wrestling with Behavioral Genetics: Science, Ethics, and Public Conversation , pp. 131-149
    • Press, N.1
  • 70
    • 70349739144 scopus 로고    scopus 로고
    • Staging and weighting evidence in biomedicine: Comparing clinical practices in cancer genetics and psychiatric genetics
    • Rabeharisoa V. and Bourret P. (2009) Staging and weighting evidence in biomedicine: Comparing clinical practices in cancer genetics and psychiatric genetics. Social Studies of Science 39(5): 691-715.
    • (2009) Social Studies of Science , vol.39 , Issue.5 , pp. 691-715
    • Rabeharisoa, V.1    Bourret, P.2
  • 71
    • 0003072893 scopus 로고
    • Artificiality and enlightenment: From sociobiology to biosociality
    • In: Crary J and Kwinter S (eds), New York, NY: Zone
    • Rabinow P. (1992) Artificiality and enlightenment: From sociobiology to biosociality. In: Crary J and Kwinter S (eds) Zone 6: Incorporations. New York, NY: Zone, 234-252.
    • (1992) Zone 6: Incorporations , pp. 234-252
    • Rabinow, P.1
  • 73
    • 0002978493 scopus 로고
    • Medicine, history and the present
    • In: Jones C and Porter R (eds), London: Routledge
    • Rose N. (1994) Medicine, history and the present. In: Jones C and Porter R (eds) Reassessing Foucault: Power, Medicine and the Body. London: Routledge, 48-72.
    • (1994) Reassessing Foucault: Power, Medicine and the Body , pp. 48-72
    • Rose, N.1
  • 75
    • 46949106800 scopus 로고    scopus 로고
    • Molecular biopolitics, somatic ethics and the spirit of biocapital
    • Rose N. (2007) Molecular biopolitics, somatic ethics and the spirit of biocapital. Social Theory & Health 5: 3-29.
    • (2007) Social Theory & Health , vol.5 , pp. 3-29
    • Rose, N.1
  • 76
    • 33745024585 scopus 로고    scopus 로고
    • Trisomy 21: From chromosomes to mental retardation
    • Roubertoux PL and Kerdelhue B. (2006) Trisomy 21: From chromosomes to mental retardation. Behavior Genetics 36(3): 346-354.
    • (2006) Behavior Genetics , vol.36 , Issue.3 , pp. 346-354
    • Roubertoux, P.L.1    Kerdelhue, B.2
  • 77
    • 38149078210 scopus 로고    scopus 로고
    • Genetic evaluation for the etiologic diagnosis of autism spectrum disorders
    • Schaefer GB and Mendelsohn NJ (2008) Genetic evaluation for the etiologic diagnosis of autism spectrum disorders. Genetics in Medicine 10(1): 4-12.
    • (2008) Genetics in Medicine , vol.10 , Issue.1 , pp. 4-12
    • Schaefer, G.B.1    Mendelsohn, N.J.2
  • 78
    • 34548691008 scopus 로고    scopus 로고
    • The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome
    • Shaffer LG, Theisen A., Bejjani B., Ballif B., Aylsworth A.,et al.(2007) The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome. Genetics in Medicine 9(9): 607-616.
    • (2007) Genetics in Medicine , vol.9 , Issue.9 , pp. 607-616
    • Shaffer, L.G.1    Theisen, A.2    Bejjani, B.3    Ballif, B.4    Aylsworth, A.5
  • 81
    • 84887772774 scopus 로고    scopus 로고
    • Flexible eugenics: Technologies of the self in the age of genetics
    • In: Goodman AH, Heath D, and Lindee MS (eds), Berkeley, CA: University of California Press
    • Taussig K-S., Rapp R., and Heath D. (2003) Flexible eugenics: Technologies of the self in the age of genetics. In: Goodman AH, Heath D, and Lindee MS (eds), Genetic Nature/Culture: Anthropology and Science Beyond the Two-Culture Divide. Berkeley, CA: University of California Press: 58-76.
    • (2003) Genetic Nature/Culture: Anthropology and Science Beyond the Two-Culture Divide , pp. 58-76
    • Taussig, K.-S.1    Rapp, R.2    Heath, D.3
  • 82
    • 79953092170 scopus 로고    scopus 로고
    • Patients-in-waiting: Living between sickness and health in the genomics era
    • (in press)
    • Timmermans S. and Buchbinder M. (2011) Patients-in-waiting: Living between sickness and health in the genomics era. Journal of Health and Social Behavior (in press).
    • (2011) Journal of Health and Social Behavior
    • Timmermans, S.1    Buchbinder, M.2
  • 83
    • 52349105020 scopus 로고    scopus 로고
    • 22q11 Deletion syndrome: Is that what they used to call.?
    • Umlauf MG (2008) 22q11 Deletion syndrome: Is that what they used to call.? Perspectives in Psychiatric Care 44(4): 259-266.
    • (2008) Perspectives in Psychiatric Care , vol.44 , Issue.4 , pp. 259-266
    • Umlauf, M.G.1
  • 84
  • 85
    • 0022362663 scopus 로고
    • A familial peri-centric inversion of chromosome 22 with a recombinant subject illustrating a pure partial monosomy syndrome
    • Watt JL, Olson IA, Johnston AW, Ross HS, Couzin DA, and Stephen GS (1985) A familial peri-centric inversion of chromosome 22 with a recombinant subject illustrating a pure partial monosomy syndrome. Journal of Medical Genetics 22(4): 283-287.
    • (1985) Journal of Medical Genetics , vol.22 , Issue.4 , pp. 283-287
    • Watt, J.L.1    Olson, I.A.2    Johnston, A.W.3    Ross, H.S.4    Couzin, D.A.5    Stephen, G.S.6
  • 86
    • 70349956425 scopus 로고    scopus 로고
    • A genome-wide linkage and association scan reveals novel loci for autism
    • Weiss LA and Arking DE (2009) A genome-wide linkage and association scan reveals novel loci for autism. Nature 461(7625): 802-808.
    • (2009) Nature , vol.461 , Issue.7625 , pp. 802-808
    • Weiss, L.A.1    Arking, D.E.2
  • 89
    • 0042828948 scopus 로고    scopus 로고
    • Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/ PROSAP2 in the major neurological symptoms
    • Wilson HL, Wong ACC, Shaw SR, Tse WY, Stapleton GA,et al.(2003) Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/ PROSAP2 in the major neurological symptoms. Journal of Medical Genetics 40(8): 575-584.
    • (2003) Journal of Medical Genetics , vol.40 , Issue.8 , pp. 575-584
    • Wilson, H.L.1    Wong, A.C.C.2    Shaw, S.R.3    Tse, W.Y.4    Stapleton, G.A.5


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