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Neurofibromatosis

Inheritance patterns and prenatal diagnosis

Inheritance patterns
Autosomal dominant. Fifty per cent of cases result from spontaneous new mutations in families with no previous history of the disorder.

A third form of neurofibromatosis which is similar to NF2 called “schwannomatosis” has recently been confirmed also due to a gene on chromosome 22. Vestibular schwannomas are rare in this condition as are meningiomas.

Prenatal diagnosis
Possible in both NF1 and NF2. Severity of effect cannot be predicted in NF1 but can sometimes be predicted in NF2. Brain scans or genetic studies may allow early diagnosis or presymptomatic diagnosis in NF2.

View Psychological and behavioural characteristics Psychological and behavioural characteristics  |  Is there support? View Is there support?

Medical text written December 1996 by Contact a Family. Approved December 1996 by Professor M Patton, Professor of Medical Genetics, St George's Hospital Medical School, London, UK. Last updated September 2007 by Professor G Evans, Professor of Medical Genetics, Regional Genetics Service, St Mary's Hospital, Manchester, UK. Information on the Psychological and Behavioural Characteristics provided by Professor J Turk. Last updated December 2005 by Professor J Turk, Professor of Developmental Psychiatry and Consultant Child & Adolescent Psychiatrist, Department of Clinical Developmental Sciences, St. George's Hospital Medical School, London, UK.

 

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