Von Recklinghausen neurofibromatosis: a linkage study of candidate and random marker genes.

Von Recklinghausen neurofibromatosis: a linkage study of candidate and random marker genes.

Genotyping, using plasma proteins or DNA polymorphisms or both, was carried out on 30 families selected through probands with Von Recklinghausen disease. The data provide additional evidence for the exclusion of loci on chromosomes 3 and 5, and chromosome arms 1q, 2p, 4p, 4q, 6q, 7p, 9q, 11p, 11q, and 14q. There was no evidence for genetic heterogeneity at D1S1 (DNF15S2) on chromosome arm 3p, u...

Linkage analysis of neurofibromatosis (von Recklinghausen disease).

Linkage analysis of 28 genetic markers was undertaken in 108 subjects from 11 families with well-documented, classic, peripheral neurofibromatosis. Fifty-four persons were affected in one four-generation family, seven three-generation families, and three two-generation families. Lod scores were calculated using the standard LIPED programme for 49 combinations of theta male and theta female from...

Von Recklinghausen neurofibromatosis and genetic linkage studies: clinical considerations.

For genetic linkage purposes, a subject at risk for Von Recklinghausen neurofibromatosis (VRNF) is one who has a first degree relative with independently documented VRNF. The presence of one or more of the designated criteria establishes the phenotypic diagnosis of VRNF in a subject at risk regardless of age. The absence of all of these criteria excludes the phenotypic diagnosis for all at risk...

Psychological aspects of von Recklinghausen neurofibromatosis (NF1)

Neurofibromatosis is a devasting autosomal dominant disease which is extremely variable in its symptomatology, intensity, and progression. There have been numerous reports published about the physical aspects of neurofibromatosis, while psychological issues have been given little attention so far. The present article presents a review of the current knowledge concerning psychological aspects of...

Neurofibromatosis, type 1 (von Recklinghausen disease).