NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes.

ABSTRACT: Two familial and seven sporadic patients with neurofibromatosis 1-who showed dysmorphism, learning disabilities/mental retardation, and additional signs and carried deletions of the NF1 gene-were investigated by use of a two-step FISH approach to characterize the deletions. With FISH of YAC clones belonging to a 7-Mb 17q11.2 contig, we estimated the extension of all of the deletions and identified the genomic regions harboring the breakpoints. Mosaicism accounted for the mild phenotype in two patients. In subsequent FISH experiments, performed with locus-specific probes generated from the same YACs by means of a novel procedure, we identified the smallest region of overlapping (SRO), mapped the deletion breakpoints, and identified the genes that map to each deletion interval. From centrome

SUBMITTER: Riva P 

PROVIDER: S-EPMC1288315 | biostudies-literature | 2000 Jan

REPOSITORIES: biostudies-literature