Resumo

ORRACA CASTILLO, Miladys; LICOURT OTERO, Deysi  e  SANCHEZ ALVAREZ DE LA CAMPA, Ana Isabel. Microdeletion syndrome in neurofibromatosis type-1: a case report. Rev Ciencias Médicas [online]. 2011, vol.15, n.4, pp. 231-237. ISSN 1561-3194.

Neurofibromatosis type-1 is a neuroectodermic genetic condition, where different types of mutations in NF1 gene have been described. Its locus is located at chromosome-17, thousand ALIGN="JUSTIFY">of genes are mapping, and some of them are found in very near regions of the gene of this disease. Medical literature about the topic was reviewed; a case presenting the exact clinical characteristics of a microdeletion syndrome of NF1 gene is reported, which constitutes a new case to the Cuban medical science.

Palavras-chave : NEUROFIBROMATOSES [genetics]; NEUROFIBROMATOSES [diagnosis]; NEUROFIBROMATOSES [complications].

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