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Duchenne muscular dystrophy in a girl with chromosome translocation

It is reported the case of an 8-year-old girl with clinical and laboratory findings suggestive of Duchenne muscular dystrophy who had a chromosome translocation involving the X chromosome, 46,X,t Bp +, Xq-). A review about Duchenne muscular distrophy in females is made, with emphasis about chromosome abnormalities, mainly chromosome translocations.


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