[Neurofibromatosis I: a clinical series and genetic correlations].
Type 1 neurofibromatosis represents 90% of all forms of neurofibromatosis. It is a disease with an incidence of 1:3000 neonates with a dominant autosomic form of transmission, but 50% of all cases are sporadic owing to new mutations. Diagnosis is mainly clinical and requires at least of the following signs: CAL, neurofibromas, glioma of the optic nerve, axillary lentigo, Lisch's nodules, bone lesions and the presence of the disease in at least one first-degree relation. These criteria may also be applied in children under 6 years old as is confirmed by the clinical series of 5 cases referred to our attention. The deletion of the long arm of chromosome 17 in the zone proximal to the centromere containing the gene of type 1 neurofibromatosis was observed in one case. The phenotype of this subject was correlated to another 5 cases reported in the literature.
Colli
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Divisione di Pediatria, USSL 29, Carate Brianza (Milano).
Radaelli
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S
Bianchi
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GA
D017668:Age of Onset; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002886:Chromosomes, Human, Pair 17; D006801:Humans; D008297:Male; D009456:Neurofibromatosis 1 / Q000175:diagnosis* / Q000235:genetics*; D016518:Neurofibromatosis 2 / Q000175:diagnosis / Q000235:genetics
Neurofibromatosi tipo 1. Casistica e correlazioni genetiche.