Cariotipo de alta resolución en sangre periférica en la Neurofibromatosis 1

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.