Partial epilepsy and 47,XXX karyotype: report of four cases.
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.
Roubertie
Agathe
A
Service de Neuropédiatrie, Hôpital Gui de Chauliac, Montpellier, France. a-roubertie@chu-montpellier.fr
Humbertclaude
Véronique
V
Leydet
Julie
J
Lefort
Geneviève
G
Echenne
Bernard
B
D002675:Child, Preschool; D002869:Chromosome Aberrations; D041321:Chromosomes, Human, X / Q000235:genetics*; D004828:Epilepsies, Partial / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006801:Humans; D007223:Infant; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics*