Molecular cytogenetic characterization of a translocation t(13;22)(q22.3;q11.23) in a patient with idiopathic partial epilepsy.
OBJECTIVE
We report on a balanced de novo translocation t(13;22)(q22.3;q11.23) in a patient with a form of focal idiopathic epilepsy. Since candidate genes for FPEVF (familial partial epilepsy with variable foci) have been mapped by linkage studies in the same cytogenetic band of chromosome 22 involved in the translocation, this case can be helpful to identify genes involved in this form of epilepsy.


METHODS
Molecular cytogenetics analyses (FISH and array-CGH) were performed.


CONCLUSIONS
Neither DNA duplications nor deletions were detected by array-CGH, thus it can be inferred that the translocation is balanced. The breakpoint on chromosome 22 was precisely mapped by FISH on the RP11-432I9 clone, which is located in the interval defined by the linkage studies for FPEVF. The role of the known or hypothetical genes next to the 22q breakpoint is discussed.
Valetto
Angelo
A
Cytogenetics and Molecular Genetic Unit, A.O.U. Pisana, Ospedale S. Chiara, Pisa, Italy. a.valetto@ao-pisa.toscana.it
Bertini
Veronica
V
Bonuccelli
Alice
A
Veroni
Franca
F
Simi
Paolo
P
Taddeucci
Grazia
G
D000328:Adult; D002648:Child; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D055028:Comparative Genomic Hybridization / Q000379:methods; D020732:Cytogenetic Analysis / Q000379:methods; D004569:Electroencephalography / Q000379:methods; D004828:Epilepsies, Partial / Q000235:genetics* / Q000503:physiopathology; D005192:Family Health; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D008297:Male; D014178:Translocation, Genetic / Q000235:genetics*