一名患有涉及Xp21易位的女性的杜氏肌营养不良症。
Duchenne muscular dystrophy in a female with a translocation involving Xp21.
作者信息
Nevin N C, Hughes A E, Calwell M, Lim J H
出版信息
J Med Genet. 1986 Apr;23(2):171-3. doi: 10.1136/jmg.23.2.171.
A female with Duchenne muscular dystrophy, diagnosed at the age of 3 years 8 months, is reported. Chromosome studies revealed an X;autosome reciprocal translocation t(X;5) (p21.2;q31.2). With the BrdU-Hoechst 33258-Giemsa technique, there was nonrandom preferential inactivation of the normal X. Our patient is the ninth reported case of Duchenne muscular dystrophy associated with an X;autosome translocation. In all cases the breakpoint in the X chromosome is in band p21 at or near the site of the DMD gene.
本文报告了一名3岁8个月时被诊断为杜氏肌营养不良症的女性患者。染色体研究显示存在X;常染色体相互易位t(X;5)(p21.2;q31.2)。采用溴脱氧尿苷-赫斯特33258-吉姆萨技术，发现正常X染色体存在非随机的优先失活。我们的患者是第九例报告的与X;常染色体易位相关的杜氏肌营养不良症病例。在所有病例中，X染色体的断点位于DMD基因位点或其附近的p21带。
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