Familial phonological disorders: four pedigrees.
Familial phonological disorders: four pedigrees.
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家族性语音障碍：四个谱系。
DOI：
10.1044/jshd.5501.160
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发表时间：
1990
期刊：
影响因子：
--
通讯作者：
Barbara A. Lewis
中科院分区：
文献类型：
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作者：
Barbara A. Lewis
4名儿童的谱系与严重的语音障碍，表现出三代成员与语音/语言问题。所有4个先证者都是女性，有两个母亲，两个父亲，六个兄弟姐妹中有五个受到影响。所有家系均包含有阅读障碍、学习障碍和言语障碍的家庭成员。家庭成员表现出的言语问题的类型和障碍的严重程度各不相同，因此表明了可变的表达能力和不完全的表达能力。常染色体显性模式，多因子多基因模型，和性别特异性阈值模型的表达进行了讨论。
The pedigrees of 4 children with a severe phonological disorder demonstrating three generations of members with speech/language problems are presented. All 4 probands were female with two mothers, two fathers, and five out of six siblings affected. All pedigrees contained family members with dyslexia and learning disabilities as well as speech disorders. Family members varied in the type of speech problems that they demonstrated and the severity of their disorder, thus suggesting variable expressivity and incomplete penetrance. An autosomal dominant mode, a multifactorial-polygenic model, and a sex-specific threshold model for expression are discussed.