Holden J J, Smith A, MacLeod P M, Masotti R, Duncan A M
Clin Genet. 1986 Jun;29(6):516-22.
An isolated case of Duchenne muscular dystrophy in a 15-year-old retarded girl with a de novo t(X;2) (p21.2;q37) translocation is described. Her clinical history is presented, with particular emphasis on CK level determinations made at several different times during her development. The similarities between this patient and previously reported females with Duchenne muscular dystrophy are discussed with reference to de novo translocations with a breakpoint at Xp21 and the risk of DMD in such females.
本文描述了一名15岁智力发育迟缓女孩患杜氏肌营养不良的孤立病例，该女孩存在新发的t(X;2)(p21.2;q37)易位。文中呈现了她的临床病史，特别强调了在其发育过程中不同时间点进行的肌酸激酶(CK)水平测定。参照断点位于Xp21的新发易位以及此类女性患杜氏肌营养不良症的风险，讨论了该患者与先前报道的患杜氏肌营养不良症女性之间的相似性。
