Abstract
Remarkable progress of cytogenetic study and technique provided an information on the contribution of detectable structural abnormalities of X-chromosome.
In particular, cases of female Ducheinne muscular dystrophy with X-autosome translocation were increasingly reported both from abroad and at home. More than 16 cases have been reported so far.
We report here an additional case of DMD (or BMD) in a female carrier of an apparently balanced translocation t (x; 2) (p21.2; q21.1) and studied comparatively 17 cases including present cases and discussed the significance of X-A T in female DMD.