Gomez M R, Engel A G, Dewald G, Peterson H A
Neurology. 1977 Jun;27(6):537-41. doi: 10.1212/wnl.27.6.537.
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.
杜兴氏肌营养不良症出现在一对双胞胎女孩中的一个身上。根据红细胞和HL抗原以及皮肤移植相容性，这对双胞胎是单卵双生。包括显带技术在内的染色体核型分析显示，两个双胞胎的染色体数目正常，X染色体构型正常。在4岁时其中一个出现杜兴氏营养不良症症状之前，这对双胞胎外貌相同。舅舅患有典型的杜兴氏肌营养不良症；母亲和未表现出症状的双胞胎显示出是杜兴氏肌营养不良症杂合子的证据。双胞胎发生后X染色体的莱昂化很容易解释单卵双胞胎的表型差异。这些发现证实了核型正常的女性中存在杜兴氏肌营养不良症表现型。
