Subcortical laminar heterotopia and lissencephaly in two families: a single X linked dominant gene.
Subcortical laminar heterotopia and lissencephaly in two families: a single X linked dominant gene.
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两个家族的皮质下层状异位和无脑畸形：单个 X 连锁显性基因。
DOI：
10.1136/jnnp.57.8.914
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发表时间：
1994
期刊：
影响因子：
--
通讯作者：
O. Dulac
中科院分区：
文献类型：
--
作者：
J. Pinard;J. Motte;C. Chiron;R. Brian;E. Andermann;O. Dulac
神经元迁移障碍现在可以通过MRI识别。本文报告了两个家庭，其中母亲有皮质下层状异位和他们的四个孩子有类似的异位（两个女孩）或严重的厚脑回或无脑畸形（两个男孩）。椎板异位在MRI T2加权像上更明显。根据皮质异常的程度，患者有轻度至重度癫痫和智力低下。在这些家族中，皮质下层状异位、厚脑回和无脑回似乎共享相同的X连锁或常染色体显性基因。未发现染色体异常，尤其是17号染色体异常。对于患有无脑畸形或皮质下层状异位的儿童的家庭进行适当的遗传咨询，应在患有精神发育迟滞或癫痫的父母或兄弟姐妹中进行MRI。
Neuronal migration disorders can now be recognised by MRI. This paper reports two families in which the mothers had subcortical laminar heterotopia and four of their children had either similar heterotopia (two girls) or severe pachygyria or lissencephaly (two boys). Laminar heterotopia was more evident on MRI T2 weighted images. The patients had mild to severe epilepsy and mental retardation depending on the extent of cortical abnormalities. In these families, subcortical laminar heterotopia, pachygyria, and lissencephaly seem to share the same X linked or autosomal dominant gene. No chromosomal abnormalities, especially of chromosome 17, could be identified. For appropriate genetic counselling of the family of a child with lissencephaly or subcortical laminar heterotopia, MRI should be performed in parents or siblings with mental retardation or epilepsy.
影响因子：
9.8
作者：
P. Vantuinen;W. Dobyns;D. C. Rich;Kim M. Summers;Terence J. Robinson;Y. Nakamura;D. Ledbetter
通讯作者：
P. Vantuinen;W. Dobyns;D. C. Rich;Kim M. Summers;Terence J. Robinson;Y. Nakamura;D. Ledbetter