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Failure of inactivation of Duchenne dystrophy X-chromosome in one of female identical twins

Departments of Neurology, Medical Genetics and Orthopedic Surgery, Mayo Clinic and Mayo Foundation, Rochester, Minnesota.

Duchenne muscular dystrophy manifested in one of girl twins. The twins were monozygous on the basis of red cell and HL antigens and skin graft compatibility. Karyotyping, including banding techniques, showed a normal number of chromosomes and a normal conflguration of the X-chromosome in both twins. The twins were identical in appearance until symptoms of Duchenne dystrophy developed in one at age-4.years. The maternal uncle had classic Duchenne dystrophy; the mother and the nonmanifesting twin showed evidence of being heterozygous for Duchenne dystrophy. The phenotypic difference in monozygous twins is readily explained by lyonization of the X-chromosome after twinning has occurred. The findings substantiate the existence of Duchenne dystrophy manifesting in females with normal karyotypes.

Dr. Gomez's address is Department of Neurology, Mayo Clinic, Rochester, MN 55901.

Presented at the twenty-eighth annual meeting of the American Academy of Neurology, Toronto, Canada, April 30, 1976.

This work was supported in part by NIH research grant NS-6277 and by a Research Center Grant from the Muscular Dystrophy Association.

Received for publication August 6, 1976.

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