[一名患有染色体易位的女孩的杜氏肌营养不良症]
[Duchenne muscular dystrophy in a girl with chromosomal translocation].
作者信息
Werneck L C, Lemos S M, Magdalena N
机构信息
Especialidade de Neurologia, Departamento de Clínica Médica - Hospital de Clinicas, Curitiba PR - Brasil.
出版信息
Arq Neuropsiquiatr. 1988 Dec;46(4):401-5. doi: 10.1590/s0004-282x1988000400012.
Abstract
It is reported the case of an 8-year-old girl with clinical and laboratory findings suggestive of Duchenne muscular dystrophy who had a chromosome translocation involving the X chromosome, 46,X,t(Bp+,Xq-). A review about Duchenne muscular dystrophy in females is made, with emphasis about chromosome abnormalities, mainly chromosome translocations.
摘要
据报道，一名8岁女孩的临床和实验室检查结果提示患有杜氏肌营养不良症，其染色体易位涉及X染色体，核型为46,X,t(Bp+,Xq-)。本文对女性杜氏肌营养不良症进行了综述，重点关注染色体异常，主要是染色体易位。
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[Duchenne muscular dystrophy in a girl with chromosomal translocation].[一名患有染色体易位的女孩的杜氏肌营养不良症]
Arq Neuropsiquiatr. 1988 Dec;46(4):401-5. doi: 10.1590/s0004-282x1988000400012.
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