一名患有X；常染色体易位的女孩患特纳综合征和杜氏肌营养不良症。
Turner's syndrome and Duchenne muscular dystrophy in a girl with an X; autosome translocation.
作者信息
Bjerglund Nielsen L, Nielsen I M
出版信息
Ann Genet. 1984;27(3):173-7.
PMID:6334482
Abstract
A balanced de novo (X;9) translocation was observed in a patient with progressive muscular dystrophy of Duchenne's type (DMD), Turner's syndrome, epilepsy and mental retardation. The involvement of the paternal X is suggested. The assignment of the gene locus for DMD is confirmed on Xp21.
摘要
在一名患有杜氏型进行性肌营养不良（DMD）、特纳综合征、癫痫和智力迟钝的患者中观察到一种平衡的新生（X；9）易位。提示父源X染色体受累。DMD基因座定位于Xp21得到证实。
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