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Bloom syndrome

What are the causes?

Bloom syndrome is caused by faults in the BLM gene on Chromosome 15q26.1. When cells replicate, they have to duplicate the cell DNA code and sometimes make mistakes. These mistakes are normally checked and repaired by the body's "house keeping" repair enzymes. The BLM gene codes for part of this repair mechanism and in Bloom syndrome it is faulty. Over time, this results in an accumulation of DNA "faults" leading to development of the syndrome.

View What are the symptoms? What are the symptoms?  |  How is it diagnosed? View How is it diagnosed?

Medical text written September 2006 by Contact a Family. Approved September 2006 by Professor F Cotter, Professor of Experimental Haematology, St Bartholomew's Hospital, London, UK.

 

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