Abstract:
: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 configuration 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.
journal_name
Neurologyjournal_title
Neurologyauthors
Gomez MR,Engel AG,Dewald G,Peterson HAdoi
10.1212/wnl.27.6.537subject
Has Abstractpub_date
1977-06-01 00:00:00pages
537-41issue
6eissn
0028-3878issn
1526-632Xjournal_volume
27pub_type
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