Partial epilepsy and 47,XXX karyotype: report of four cases
| Autor: | Bernard Echenne, Agathe Roubertie, Julie Leydet, Véronique Humbertclaude, Geneviève Lefort |
|---|---|
| Rok vydání: | 2005 |
| Předmět: |
Genetics
Chromosome Aberrations Pathology medicine.medical_specialty Chromosomes Human X Chromosome Infant Karyotype Trisomy Biology medicine.disease Mental deficiency Epilepsy Developmental Neuroscience Neurology Child Preschool Pediatrics Perinatology and Child Health medicine Humans Female Neurology (clinical) Epilepsies Partial X chromosome Partial epilepsy |
| Zdroj: | Pediatric neurology. 35(1) |
| ISSN: | 0887-8994 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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