17q Inversion involving the neurofibromatosis type one locus in a family with neurofibromatosis type one
Journal Article
·
· American Journal of Medical Genetics
- Children`s Hospital, Boston, MA (United States); and others
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 gel electrophoresis we have found that the inversion separates cDNA probes FB5D and AE25, which are normally adjacent to one published report of a gross chromosomal rearrangement responsible for NF1. The features in this family are typical for NF1, and are not unusually severe. 26 refs., 5 figs.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 426175
- Journal Information:
- American Journal of Medical Genetics, Vol. 60, Issue 4; Other Information: PBD: 14 Aug 1995
- Country of Publication:
- United States
- Language:
- English
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