Xp21 muscular dystrophy due to X chromosome inversion.
Two brothers with Duchenne muscular dystrophy have an inversion of the X chromosome, 46, Y, inv(X) (p11.2p21.2). Because their mother is an unaffected carrier of the inversion, this confirms that maternal passage of a structurally abnormal X chromosome can cause dystrophinopathy in males. Our experience suggests that as well as molecular genetic analysis, karyotyping can be useful in Xp21 muscular dystrophy.
Baxter
P S
PS
Ryegate Centre, Sheffield Childrens Hospital, UK.
Maltby
E L
EL
Quarrell
O
O
D000328:Adult; D007446:Chromosome Inversion; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics*