Cariotipo de alta resolución en sangre periférica en la Neurofibromatosis 1 / High Resolution Karyotype in Peripheral Blood in Neurofibromatosis 1
Abstract
La Neurofibromatosis tipo 1 (NF1) es uno de los desórdenes autosómicos dominantes más comunes y está causado por defectos en el gen NF1 situado en el cromosoma 17q11.2. Se realizó un estudio descriptivo y transversal en pacientes con NF1 en Pinar del Río durante el año 2005, con el objetivo de identificar en cariotipos de alta resolución defectos cromosómicos y relacionarlos con las características clínicas-radiológicas encontradas, seleccionando 42 pacientes con NF1, asociado a dismorfias, retraso mental, degeneración maligna, neurofibromas plexiformes y tumores del SNC. El 4,7% presentó cariotipo anormal. Las alteraciones estructurales que involucran el gen de la NF1 conllevan a una mayor severidad clínica de la enfermedad.
Palabras claves: NEUROFIBROMATOSIS/ GEN NF1/ CARIOTIPO.
ABSTRACT
The Neurofibromatosis Type-1 (NF1) is one of the most common autosomal dominant disorders and it is provoked by a defect in the NF1 gene located in chromosome 17q11.2. A descriptive, cross-sectional study in patients carrying NF1 in Pinar del Rio was carried out during 2005 aimed at identifying the high resolution karyotypes of chromosomic defects to relate them to the clinical-radiologic features found, to perform it 42 patients carrying NF1 associated with dysmorphia, mental retardation, malignant degeneration, plexiform neurofibromas and tumors in the CNS were chosen. 4, 7% showed abnormal karyotype. The structural changes involving the NF1-gene lead to a greater clinical severity of the disease.
Key words: Neurofibromatosis, gene-NF1, karyotype
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References
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