Bortolini E R, da Silva D M, Chequer R S, Vianna-Morgante A M, Zatz M
Am J Med Genet. 1986 Oct;25(2):239-43. doi: 10.1002/ajmg.1320250207.
We report on a 4-year-old girl with Duchenne muscular dystrophy (DMD). One of her sisters had grossly elevated serum creatine-kinase and pyruvate-kinase levels, and one of her maternal great uncles was presumptively affected by DMD. Cytogenetic analysis showed a 45,X/46,XX/47,XXX chromosome constitution. The maternally inherited DMD gene is presumed to be present on the single X of the 45,X cell line.
我们报告了一名患有杜氏肌营养不良症（DMD）的4岁女孩。她的一个姐妹血清肌酸激酶和丙酮酸激酶水平显著升高，她的一位母系叔祖父被推测患有DMD。细胞遗传学分析显示其染色体组成为45,X/46,XX/47,XXX。推测母系遗传的DMD基因存在于45,X细胞系的单条X染色体上。
