Hernández LJ, Lantigua CPA

Language: Spanish
References: 15
Page: 27-32
PDF size: 435.18 Kb.

ABSTRACT

Marfan syndrome is a hereditary condition caused by the mutation of the fibrillin-1 gen. The characterizations of the mutations found worldwide have revealed a great allelic and clinic heterogeneity. A descriptive study aimed at clinically characterizing the patients with this syndrome being attended at the Clinical Genetics Department in the “Juan Manuel Márquez” Pediatric Hospital from 2000 to 2010 was carried out. From the relation between the phenotypic expression and the mutations of the FBN-1 gen described for this disease, a strategy for the molecular study of each family and a diagnosis algorithm for the molecular study of Cuban patients with Marfan syndrome are proposed. The strategy and the algorithm will facilitate the early prevention of possible complications.

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