LEADER 03618oam 2200709I 450 001 9910790445103321 005 20230801221533.0 010 $a1-134-00479-6 010 $a1-283-45811-X 010 $a9786613458117 010 $a1-134-00480-X 010 $a0-203-87815-9 024 7 $a10.4324/9780203878156 035 $a(CKB)2670000000148538 035 $a(EBL)957358 035 $a(OCoLC)798533030 035 $a(SSID)ssj0000678265 035 $a(PQKBManifestationID)11396224 035 $a(PQKBTitleCode)TC0000678265 035 $a(PQKBWorkID)10699458 035 $a(PQKB)10320342 035 $a(MiAaPQ)EBC957358 035 $a(Au-PeEL)EBL957358 035 $a(CaPaEBR)ebr10533762 035 $a(CaONFJC)MIL345811 035 $a(OCoLC)793947604 035 $a(OCoLC)785782473 035 $a(FINmELB)ELB132001 035 $a(EXLCZ)992670000000148538 100 $a20180706d2012 uy 0 101 0 $aeng 135 $aur|n|---||||| 181 $ctxt 182 $cc 183 $acr 200 10$aCreating conditions $ethe making and remaking of a genetic syndrome /$fKatie Featherstone and Paul Atkinson 210 1$aAbingdon, Oxon ;$aNew York, N.Y. :$cRoutledge,$d2012. 215 $a1 online resource (141 p.) 225 1 $aGenetics and society 300 $aDescription based upon print version of record. 311 $a1-138-01992-5 311 $a0-415-49665-9 320 $aIncludes bibliographical references (p. [123]-126) and index. 320 $aIncludes bibliographical references and index. 327 $aFront Cover; Creating Conditions; Copyright Page; Contents; Acknowledgments; 1. Multiple sites of a syndrome; 2. Making medical entities; 3. The culture of the clinic; 4. The transformation of patienthood; 5. Transforming Rett syndrome; 6. The making and remaking of medical classifications; References; Index 330 $a"Based on original ethnographic research with scientists, clinicians and families, this book examines Rett syndrome to illuminate more general issues concerning the construction and interpretation of diseases and syndromes. It derives from research with a specialist team of clinicians and scientists, and a series of families referred with a potential diagnosis of Rett syndrome, and documents the scientific, clinical, patient and family experiences over a three-year period. Although Rett syndrome itself is rare, it is one of some 2,000 such syndromes, and its genetic basis has recently been linked to the much broader Autism spectrum. From a sociological or anthropological point of view, it is also of considerable interest as a clinical entity that is undergoing transformation in the light of recent post-genomic research. Traditionally, such syndromes have been diagnosed clinically, but increasingly genetic technologies are having an impact on the diagnosis, description and classification of conditions. Rett Syndrome is thus a key exemplar of the implications of genetic medicine that are far-reaching and extend well beyond this particular syndrome"--$cProvided by publisher. 410 0$aGenetics and society. 606 $aRett syndrome 606 $aGenetic disorders 615 0$aRett syndrome. 615 0$aGenetic disorders. 676 $a616.85/884 686 $aSOC002020$aSOC024000$aSOC026000$2bisacsh 700 $aFeatherstone$b Katie.$01165553 701 $aAtkinson$b Paul$f1947-$028015 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910790445103321 996 $aCreating conditions$93709307 997 $aUNINA