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一个患有脆性X综合征的家庭。

A family with fragile-X syndrome.

作者信息

Kerbeshian J, Burd L, Martsolf J

出版信息

J Nerv Ment Dis. 1984 Sep;172(9):549-51. doi: 10.1097/00005053-198409000-00007.

Abstract

A family with fragile-X syndrome is reported. One sibling has atypical pervasive developmental disorder and moderate mental retardation. A second sibling has Tourette's syndrome, moderate mental retardation, seizure disorder, and autism. A third sibling has attention deficit disorder, moderate mental retardation, and developmental language disorder, expressive type. The authors believe that this family represents a classic example of the differential outcome of interactions of common biogenetic and environmental influences. We propose that in this family the multipotential outcome is at least influenced by if not caused by a common genetic defect.

摘要

本文报道了一个患有脆性X综合征的家庭。其中一个兄弟姐妹患有非典型广泛性发育障碍和中度智力迟钝。另一个兄弟姐妹患有图雷特氏综合征、中度智力迟钝、癫痫症和自闭症。第三个兄弟姐妹患有注意力缺陷障碍、中度智力迟钝和发育性语言障碍(表达型)。作者认为,这个家庭代表了常见生物遗传和环境影响相互作用产生不同结果的经典例子。我们提出,在这个家庭中,多种潜在结果至少受到一种常见基因缺陷的影响,如果不是由其导致的话。

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