Transmission of dystrophinopathy by X-chromosome inversion.
A woman had a karyotype of 46Xinv(X)(p21.2;q26.1) and mosaicism of dystrophin-negative muscle fibers. The X-chromosome inversion was transmitted to her daughter, who had an elevated serum CK. The genetic transmission as well as the probable random inactivation of the abnormal X chromosome in this mildly affected patient distinguish this case from those of dystrophinopathy with X;autosome translocations.
Konagaya
M
M
Department of Neurology, Suzuka National Hospital, Japan.
Honda
H
H
Sakai
M
M
Iida
M
M
D007446:Chromosome Inversion; D016189:Dystrophin / Q000235:genetics*; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007621:Karyotyping; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D014960:X Chromosome
D016189:Dystrophin