Location on Chromosome 15 of the Gene Defect Causing Marfan Syndrome

• Published in: The New England journal of medicine Vol. 323; no. 14; pp. 935 - 939
• Main Authors: Kainulainen, Katariina, Pulkkinen, Leena, Savolainen, Aslak, Kaitila, Ilkka, Peltonen, Leena
• Format: Journal Article
• Language: English
• Published: Boston, MA Massachusetts Medical Society 04-10-1990
• Subjects: Age; Biological and medical sciences; Bone diseases; Chromosome 15; Chromosome Mapping; Chromosomes; Chromosomes, Human, Pair 15; Defects; Deoxyribonucleic acid; DNA; Female; Genes; Genetic counseling; Genetics; Genomes; Hereditary diseases; Hospitals; Humans; Laboratories; Localization; Lod Score; Male; Marfan syndrome; Marfan Syndrome - genetics; Medical genetics; Medical sciences; Public health; Studies; Family study; DNA; D15-Chromosome; Cytogenetics; Congenital disease; Marfan syndrome; Genetic disease
• ISSN: 0028-4793; 1533-4406
• DOI: 10.1056/NEJM199010043231402

MARFAN syndrome is one of the most common inherited connective-tissue disorders, with an estimated prevalence of 40 to 60 cases per million population.
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It is inherited in an autosomal dominant fashion, although it is sporadic in 15 percent of cases.
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The most prominent clinical manifestations of the disorder occur in the skeletal, ocular, and cardiovascular systems.
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Diagnosis has been problematic because of the extreme variability of clinical expression. The current diagnostic criteria were established at the Seventh International Congress on Human Genetics in 1986 and defined at the First International Symposium on Marfan Syndrome in 1988.
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,
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These criteria include "more . . .