期刊
PEDIATRIC NEUROLOGY
卷 35, 期 1, 页码 69-74出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.pediatrneurol.2006.01.003
关键词
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Epilepsy is a common finding in chromosomal imbalances, but only a few chromosome abnormalities have a characteristic electro-clinical pattern. Trisomy X is one of the most common sex chromosome abnormalities in females, and is associated with considerable phenotypic variability. This report describes four 47,XXX females with mental deficiency and epilepsy. Although a specific electro-clinical pattern could not be defined, the epileptic phenotypes of these patients share many features; we suggest that the association 47,XXX/epilepsy/mental retardation may not be coincidental. This report also enlarges the clinical spectrum of the 47,XXX phenotype. Moreover, these observations highlight the critical role of chromosome X in epilepsy and mental retardation. (c) 2006 by Elsevier Inc. All rights reserved.
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