[Duchenne muscular dystrophy in a girl with chromosomal 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 dystrophy in females is made, with emphasis about chromosome abnormalities, mainly chromosome translocations.
Werneck
L C
LC
Especialidade de Neurologia, Departamento de Clínica Médica - Hospital de Clinicas, Curitiba PR - Brasil.
Lemos
S M
SM
Magdalena
N
N
D002648:Child; D005260:Female; D006801:Humans; D007621:Karyotyping; D009136:Muscular Dystrophies / Q000235:genetics*; D014178:Translocation, Genetic; D014960:X Chromosome
Distrofia muscular de Duchenne em menina com translocação cromossômica.