Neurofibromatosis 2 in a patient with a de novo balanced reciprocal translocation 46,X,t(X;22)(p11.2;q11.2)

Abstract excerpt

Neurofibromatosis 2 (NF2) is an autosomal dominant disease associated with mutations in the gene NF2 .1 In clinical practice, the diagnosis is made if a patient satisfies the 1987 National Institutes of Health diagnostic criteria, which are either the presence of bilateral vestibular schwannomas or a first degree relative with NF2 and a unilateral vestibular schwannoma, or any two of the following: meningioma,...

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