17q inversion involving the neurofibromatosis type one locus in a family with neurofibromatosis type one
- 14 August 1995
- journal article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 60 (4) , 312-316
- https://doi.org/10.1002/ajmg.1320600410
Abstract
We report a family with a paracentric inversion of the long arm of chromosome 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 ends of the NF1 gene confirmed that the inversion disrupts the gene. Using field inversion gel electrophoresis we have found that the inversion 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 this family are typical for NF1, and are not unusually severe.Keywords
This publication has 21 references indexed in Scilit:
- Prenatal diagnosis of Charcot‐Marie‐Tooth disease type 1a by multicolor in situ hybridizationAmerican Journal of Medical Genetics, 1993
- A new disease-causing mutation in the GAP-related domain of the NF1 geneHuman Molecular Genetics, 1993
- Novel alleles, hemizygosity and deletions at an Alu-repeat within the neurofibromatosis type 1 (NF1) geneHuman Molecular Genetics, 1993
- Identification and characterization of sporadic and inherited mutations in exon 31 of the neurofibromatosis (NF1) geneHuman Genetics, 1993
- Analysis of mutations at the neurofibromatosis 1 (NF1) locus.Human Molecular Genetics, 1992
- Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1Human Genetics, 1991
- A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutationsPublished by Elsevier ,1990
- Physical Mapping of a Translocation Breakpoint in NeurofibromatosisScience, 1989
- Cases of neurofibromatosis with rearrangements of chromosome 17 involving band 17q11.2American Journal of Medical Genetics, 1987
- Gene for von Recklinghausen Neurofibromatosis Is in the Pericentromeric Region of Chromosome 17Science, 1987