Partial epilepsy and 47,XXX karyotype: report of four cases.

Abstract

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.

• Authors: Agathe Roubertie, Véronique Humbertclaude, Julie Leydet, Geneviève Lefort, Bernard Echenne
• Journal: Pediatric neurology (Pediatr Neurol) Vol. 35 Issue 1 Pg. 69-74 (Jul 2006) ISSN: 0887-8994 [Print] United States
• PMID: 16814091 (Publication Type: Case Reports, Journal Article)

Topics

• Child, Preschool
• Chromosome Aberrations
• Chromosomes, Human, X (genetics)
• Epilepsies, Partial (diagnosis, genetics, physiopathology)
• Female
• Humans
• Infant
• Trisomy (diagnosis, genetics)