Partial monosomy Xq(Xq23 --> qter) and trisomy 4p(4p15.33 --> pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features.
Studies of epilepsy associated with chromosomal abnormalities may provide information about clinical and EEG phenotypes and possibly to identify new epilepsy genes. We describe a female patient with intractable focal epilepsy, borderline intellectual functioning, and facial dysmorphisms, in whom genetic study (i.e., karyotype and array-CGH analysis) revealed a distal trisomy 4p and distal monosomy Xq. Although any genetic hypothesis remains speculative, several genes are located in the 4p chromosome segment involved in the rearrangement, some of which may be related to epilepsy.
Bartocci
Arnaldo
A
Unit of Neurophysiopathology, Hospital of Perugia, Italy.
Striano
Pasquale
P
Mancardi
Maria Margherita
MM
Fichera
Marco
M
Castiglia
Lucia
L
Galesi
Ornella
O
Michelucci
Roberto
R
Elia
Maurizio
M
D000328:Adult; D002869:Chromosome Aberrations; D002894:Chromosomes, Human, Pair 4; D041321:Chromosomes, Human, X; D004569:Electroencephalography; D004828:Epilepsies, Partial / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007621:Karyotyping; D008297:Male; D009006:Monosomy; D014314:Trisomy / Q000235:genetics*