Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification

Background: Neurofibromatosis type 2 (NF2) is almost unique among inherited disorders in the frequency of mosaicism in the first affected generation. However, the implications of this on transmission risks have not been fully elucidated. Methods: The expanded database of 460 families with NF2 and 70...

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Veröffentlicht in:	Journal of medical genetics Jg. 44; H. 7; S. 424 - 428
Hauptverfasser:	Evans, D Gareth R, Ramsden, R T, Shenton, A, Gokhale, C, Bowers, N L, Huson, S M, Pichert, G, Wallace, A
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	London BMJ Publishing Group Ltd 01.07.2007 BMJ BMJ Publishing Group LTD BMJ Group
Schlagworte:	Biological and medical sciences Deoxyribonucleic acid DNA DNA Mutational Analysis FISH fluorescence in situ hybridisation Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genetic Predisposition to Disease Genetics of eukaryotes. Biological and molecular evolution Humans In Situ Hybridization, Fluorescence Lymphocytes Medical genetics Medical sciences MLPA Molecular and cellular biology Molecular Probe Techniques Mosaicism multiple ligation-dependent probe amplification Mutation Neurofibromatosis 2 - complications Neurofibromatosis 2 - genetics neurofibromatosis type 2 Neurology Neuroma, Acoustic - etiology NF2 Nucleic Acid Amplification Techniques Original Patients Pedigree Polymorphism, Single-Stranded Conformational Risk Assessment Tumors Tumors of the nervous system. Phacomatoses unilateral vestibular schwannoma UVS vestibular schwannoma Human Vestibular nerve Neurofibromatosis II Nervous system diseases Multiple Neurinoma Risk Gene amplification Ligature Risk factor Genetics Mosaicism Molecular probe Benign neoplasm Mutation
ISSN:	0022-2593, 1468-6244, 1468-6244
Online-Zugang:	Volltext
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