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Pelizaeus-Merzbacher disease

Inheritance patterns and prenatal diagnosis

Inheritance patterns
It is often inherited in an X-linked fashion, i.e. boys are affected and their female relatives, who are not themselves affected, may be carriers. The gene duplication can be detected by cytogenetic and molecular analysis in Regional Genetics Centres where counselling is also available.

Prenatal diagnosis
Prenatal diagnosis is available and has been carried out in a number of cases.

View What are the causes? What are the causes?  |  Is there support? View Is there support?

Medical text written April 2002 by Professor S Malcolm, Head of the Department of Molecular Genetics, Institute of Child Health, London, UK.

 

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