A family with a grand-maternally derived interstitial duplication of proximal 15q
A family with a grand-maternally derived interstitial duplication of proximal 15q
复制标题
DOI：
10.1034/j.1399-0004.2001.600604.x
复制
发表时间：
2001-12-01
影响因子：
3.5
通讯作者：
Driscoll, DJ
中科院分区：
文献类型：
--
作者：
Boyar, FZ;Whitney, MM;Driscoll, DJ
大约1%的自闭症或广泛性发育障碍患者有15 q11-q13区域的重复。这些异常可以通过常规的G带染色体研究检测到，显示额外的标记染色体，或通过荧光原位杂交（FISH）分析证明，显示间质重复。我们在这里报告的分子，细胞遗传学，临床和神经精神评估的一个家庭，其中3的4个兄弟姐妹继承了间质重复15 q11-q13。这种复制是从他们的母亲谁也有一个母系衍生的复制继承。受影响的家庭成员有言语失用症，语音意识缺陷，发育性语言障碍，阅读障碍，以及肢体失用症，但没有任何畸形的临床特征。在这个家庭的观察表明，近端15 q重复的表型表现也可能涉及语言为基础的学习障碍。
About 1% of individuals with autism or types of pervasive developmental disorder have a duplication of the 15q11-q13 region. These abnormalities can be detected by routine G-banded chromosome study, showing an extra marker chromosome, or demonstrated by fluorescence in situ hybridization (FISH) analysis, revealing an interstitial duplication. We report here the molecular, cytogenetic, clinical and neuropsychiatric evaluations of a family in whom 3 of 4 siblings inherited an interstitial duplication of 15q11-q13. This duplication was inherited from their mother who also had a maternally derived duplication. Affected family members had apraxia of speech, phonological awareness deficits, developmental language disorder, dyslexia, as well as limb apraxia but did not have any dysmorphic clinical features. The observations in this family suggest that the phenotypic manifestations of proximal 15q duplications may also involve language-based learning disabilities.