17Q INVERSION INVOLVING THE NEUROFIBROMATOSIS TYPE ONE LOCUS IN A FAMILY WITH NEUROFIBROMATOSIS TYPE ONE

We report a family with a paracentric inversion of the long arm of chr omosome 17 [inv(17)(q11.2q25.1)] and neurofibromatosis type one (NF1), The family was ascertained because of NF1 and multiple miscarriages. Fluorescence in situ hybridization using cosmid probes from opposite e nds of the NF1 gene confirmed that the inversion disrupts the gene, Us ing field inversion gel electrophoresis we have found that the inversi on separates cDNA probes FB5D and AE25, which are normally adjacent to one another in the NF1 gene. This is the third published report of a gross chromosomal rearrangement responsible for NF1, The features in t his family are typical for NF1, and are not unusually severe. (C) 1995 Wiley-Liss, Inc.