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Dyskeratosis Congenita

Inheritance patterns and prenatal diagnosis

Inheritance patterns
The most common pattern of inheritance is X-linked recessive where the gene responsible for Dyskeratosis Congenita is carried on the X- chromosome. The gene (DKCI) was identified in 1998. Autosomal dominant and autosomal recessive forms also exist. The gene (TERC-RNA component of telomerase) mutated in autosomal dominant DC was identified in 2001.

Prenatal diagnosis
DNA testing can be carried out for the genes responsible for the X-linked and autosomal dominant forms of Dyskeratosis Congenita. It is available in the UK as part of the Dyskeratosis Congenita Registry at the Department of Haematology, Imperial College School of Medicine, Hammersmith Hospital, London, UK.

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Medical text written August 1996 by Dr I Dokal. Last updated October 2005 by Professor I Dokal, Professor of Haematology, Hammersmith Hospital, London, UK.

 

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