03629nam 2200721Ia 450 991082241100332120200520144314.01-134-00479-61-283-45811-X97866134581171-134-00480-X0-203-87815-910.4324/9780203878156 (CKB)2670000000148538(EBL)957358(OCoLC)798533030(SSID)ssj0000678265(PQKBManifestationID)11396224(PQKBTitleCode)TC0000678265(PQKBWorkID)10699458(PQKB)10320342(MiAaPQ)EBC957358(Au-PeEL)EBL957358(CaPaEBR)ebr10533762(CaONFJC)MIL345811(OCoLC)793947604(OCoLC)785782473(FINmELB)ELB132001(EXLCZ)99267000000014853820110303d2012 uy 0engur|n|---|||||txtccrCreating conditions the making and remaking of a genetic syndrome /Katie Featherstone, Paul Atkinson1st ed.Abingdon, Oxon ;New York, NY Routledge20121 online resource (141 p.)Genetics and societyDescription based upon print version of record.1-138-01992-5 0-415-49665-9 Includes bibliographical references (p. [123]-126) and index.Includes bibliographical references and index.Front 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"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"--Provided by publisher.Genetics and society.Rett syndromeGenetic disordersRett syndrome.Genetic disorders.616.85/884SOC002020SOC024000SOC026000bisacshFeatherstone Katie1165553Atkinson Paul1947-28015MiAaPQMiAaPQMiAaPQBOOK9910822411003321Creating conditions3980536UNINA