先天性眼球震颤与7号和15号染色体平衡易位共分离。
Congenital nystagmus cosegregating with a balanced 7;15 translocation.
作者信息
Patton M A, Jeffery S, Lee N, Hogg C
机构信息
South West Thames Regional Genetic Service, St George's Hospital Medical School, London, UK.
出版信息
J Med Genet. 1993 Jun;30(6):526-8. doi: 10.1136/jmg.30.6.526.
Abstract
We report a family in which autosomal dominant congenital nystagmus cosegregates with a balanced 7;15 translocation. Ophthalmic investigation showed predominantly horizontal nystagmus with a small rotatory component and no significant loss of visual function. This finding suggests a possible localisation for autosomal dominant congenital nystagmus (McKusick 164100).
摘要
我们报告了一个常染色体显性遗传性先天性眼球震颤与7号和15号染色体平衡易位共同分离的家系。眼科检查显示主要为水平性眼球震颤，伴有轻微旋转成分，且视觉功能无明显丧失。这一发现提示常染色体显性遗传性先天性眼球震颤（麦库西克编号164100）可能的定位。
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