Ascertainment and severity of Marfan syndrome in a Scottish population. Issue 1 (January 1994)

• Record Type: Journal Article
• Authors: Gray, J R; Bridges, A B; Faed, M J; Pringle, T; Baines, P; Dean, J; Boxer, M
• Is Part Of: Journal of medical genetics. Volume 31:Issue 1(1994)
• Page Start: 51
• Page End: 54
• Publication Date: 1994-01
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.31.1.51
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : This study in north east Scotland has shown that Marfan syndrome has a minimal birth incidence of 1:9802 live births, a minimal prevalence of 1:14217, and that 8/30 (26.7%) of cases in our series are new mutations. The calculated mutation rate is 15 +/- 6.7 x 10(-6) and there is evidence of reduced reproductive fitness.