Evans M I, Farrell S A, Greb A, Ray P, Johnson M P, Hoffman E P
Department of Obstetrics/Gynecology, Hutzel Hospital/Wayne State University, Detroit, Michigan 48201.
Am J Med Genet. 1993 May 15;46(3):309-12. doi: 10.1002/ajmg.1320460314.
DNA methods to diagnose Duchenne muscular dystrophy (DMD) are not always informative, and we have published previously the first instance of in utero muscle biopsy to assess dystrophin in a male fetus having the same "X" as an affected sib. We present here a female fetus with a de novo X,1 translocation with breakpoint at Xp21, detected on amniocentesis for advanced maternal age. The translocation breakpoint placed her at high risk for DMD. In utero muscle biopsy at 20 weeks of gestation produced a specimen positive for dystrophin immunofluorescence indicating a likely normal fetus. The pregnancy was continued, and at term the baby girl was found to have normal serum creatine kinase levels, and was therefore unaffected with DMD. Our experiences add de novo Xp21 translocation to the indications for in utero muscle biopsy for diagnosis of DMD.
诊断杜氏肌营养不良症（DMD）的DNA方法并不总是能提供有用信息，我们之前发表过首例子宫内肌肉活检的案例，该案例是为了评估一名与患病同胞具有相同“X”染色体的男性胎儿的抗肌萎缩蛋白。我们在此呈现一名患有新发X,1易位且断点位于Xp21的女性胎儿，该胎儿是在因产妇年龄较大而进行羊膜穿刺术时被检测到的。这种易位断点使她患DMD的风险很高。妊娠20周时进行的子宫内肌肉活检产生了一份抗肌萎缩蛋白免疫荧光呈阳性的标本，表明胎儿可能正常。妊娠继续进行，足月时发现女婴血清肌酸激酶水平正常，因此未患DMD。我们的经验将新发Xp21易位添加到子宫内肌肉活检诊断DMD的适应症中。
