由于X染色体倒位导致的Xp21型肌营养不良症
Xp21 muscular dystrophy due to X chromosome inversion.
作者信息
Baxter P S, Maltby E L, Quarrell O
机构信息
Ryegate Centre, Sheffield Childrens Hospital, UK.
出版信息
Neurology. 1997 Jul;49(1):260. doi: 10.1212/wnl.49.1.260.
PMID:9222202
Abstract
Two brothers with Duchenne muscular dystrophy have an inversion of the X chromosome, 46, Y, inv(X) (p11.2p21.2). Because their mother is an unaffected carrier of the inversion, this confirms that maternal passage of a structurally abnormal X chromosome can cause dystrophinopathy in males. Our experience suggests that as well as molecular genetic analysis, karyotyping can be useful in Xp21 muscular dystrophy.
摘要
两名患有杜氏肌营养不良症的兄弟存在X染色体倒位，核型为46, Y, inv(X) (p11.2p21.2)。由于他们的母亲是该倒位的未受影响携带者，这证实了结构异常的X染色体通过母系传递可导致男性患肌营养不良症。我们的经验表明，除分子遗传学分析外，染色体核型分析在Xp21型肌营养不良症中也可能有用。
Zotero 插件