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Haplotype analysis enables the diagnosis of Marfan syndrome. Conn Med 2004;68(6):363-6

Date

07/23/2004

Pubmed ID

15266886

Scopus ID

2-s2.0-2942748373 (requires institutional sign-in at Scopus site)   2 Citations

Abstract

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.

Author List

Basel D, Kilpatrick MW, Tsipouras P

Author

Donald Basel MD Chief, Professor in the Pediatrics department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Child
Diagnosis, Differential
Female
Haplotypes
Humans
Marfan Syndrome
Pedigree
Phenotype
Polymorphism, Genetic