Haplotype analysis enables the diagnosis of Marfan syndrome.
Marfan syndrome is an inherited disorder of connective tissue associated with aneurysmal rupture of the ascending aorta. Timely and accurate diagnosis has reduced the mortality and morbidity associated with this disorder through expectant observation and implementation of appropriate prophylactic therapy. To this end, haplotype analysis using polymorphic genetic markers in close proximity to the Fibrillin-1 gene (FBN1) were employed to aid in the diagnosis of two individuals who did not meet the clinical diagnostic criteria.
Basel
Donald
D
Department of Genetics and Developmental Biology, University of Connecticut Health Center, Farmington, CT 06030-3054, USA.
Kilpatrick
Michael W
MW
Tsipouras
Petros
P
D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008382:Marfan Syndrome / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic