Síndrome de microdeleción en la neurofibromatosis tipo- 1: presentación de un caso

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.