Ascertainment and severity of Marfan syndrome in a Scottish population.
JR Gray, AB Bridges, MJ Faed, T Pringle… - Journal of medical …, 1994 - jmg.bmj.com
JR Gray, AB Bridges, MJ Faed, T Pringle, P Baines, J Dean, M Boxer
Journal of medical genetics, 1994•jmg.bmj.comThis 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.
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.
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.
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