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Last updated:

July 2001






 

 

 

 

 


 

Facioscapulohumeral muscular dystrophy

deletion mechanism

 

We demonstrated that the partial D4Z4 repeat array deletion occurs in at least 40% of cases mitotically, i.e. after fertilization. Moreover, the presence of translocated D4Z4 repeats on chromosome 10qter is a predisposing factor for the deletion. We therefore hypothesize that partial D4Z4 deletions likely occur by interchromosomal repeat exchanges between identical repeat arrays. However, the mechanism underlying these deletion is not known in detail. Current studies are aiming at a better understanding of the timing and mechanism by which these deletions occur. More information: Silvère van der Maarel, Ph.D. E-mail: maarel@lumc.nl).