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Re: Crouzon syndrome From: T-H Bui, Clinical Genetics, Karolinska Hospital (bui@gen.ks.se) Fri Nov 15 06:25:09 1996 Messages sorted by: [ date ][ thread ][ subject ][ author ] Next message: Charlie Chambers: "Re: Keillands:" Previous message: Carlos Rubio: "Crouzon´s syndrome" At 06.32 1996-11-15 -0600, Carlos Rubio wrote: >I would be very interested if any of you have experience with the >prenatal diagnosis of Crouzon4s syndrome. Is it possible? Crouzon craniofacial dysotosis is an antosomal dominant disorder. Mutations in the fibroblast growth factor receptor 2 (FGFR2) located at chromosome10q26 has been found in a number of sporadic (de novo) and familiar cases. Thus, prenatal diagnosis by CVS and DNA analysis is feasible by direct mutation analysis if the index parent's mutation is characterized. Otherwise, an indirect method by linkage analysis is necessary. In Europe, there are at least 4 laboratories performing the molecular analysis for Crouzon. Two are in Denmark, one in Germany and the last one in Italy. If you are living in Europe and your geneticists are unable to give you an answer, a rapid way to check if the diagnosis can be made by a molecular approach is to go the web supported by the European Union (European Directory of DNA laboratories at http://www.eddnal.com/ and click at 'start a new request' and follow the instructions. There are now (at least) 385 monogenic disorders which can be diagnosed by DNA-analysis in the European Union. ***************************************************************** The-Hung Bui, M.D. Associate Head Physician -- Department of Clinical Genetics Karolinska Hospital S-171 76 Stockholm, Sweden phone: +46 8 729 4989 or 729 2472 (secretary) fax: +46 8 32 77 34 E-mail: bui@gen.ks.se or The-Hung.Bui@molmed.ki.se ****************************************************************** Next message: Charlie Chambers: "Re: Keillands:" Previous message: Carlos Rubio: "Crouzon´s syndrome"

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