Duchenne muscular dystrophy in a 46 XY female.
The most common muscular dystrophy, Duchenne muscular dystrophy (DMD), is an X-linked disorder that ordinarily has full clinical expression only in males. Reports of typical clinical features in females are rare but have occurred with a phenotypically identical autosomal recessive muscular dystrophy as well as in females with X-chromosome abnormalities such as the Turner syndrome. A girl with full expression of DMD due to a 46 XY karyotype is reported, and other clinical conditions in which expression of the DMD gene occurs in females are reviewed.
Wulfsberg
E A
EA
Skoglund
R R
RR
D002648:Child; D005260:Female; D006801:Humans; D007621:Karyotyping; D009136:Muscular Dystrophies / Q000235:genetics*; D012729:Sex Chromosome Aberrations / Q000235:genetics*