Symptomatic generalized epilepsy associated with an inverted duplication of chromosome 15.
Seizure
; 9(2): 145-50, 2000 Mar.
Article
en En
| MEDLINE
| ID: mdl-10845741
ABSTRACT
An inverted duplication of chromosome 15 (inv dup[15] chromosome) is the most common supernumerary marker chromosome in humans. Inv dup(15) chromosomes are commonly associated with mental retardation, epilepsy, behavioral problems and structural malformations. Though epilepsies associated with inv dup(15) chromosomes are often intractable, there have been very few reports regarding the seizure manifestations or types. We report a patient with severe mental retardation and intractable epilepsy, associated with an inv dup(15) chromosome. The seizures recorded with EEG-VTR monitoring were axial and generalized tonic seizures, and our case was diagnosed as symptomatic generalized epilepsy. Molecular and cytogenetic analysis showed an inv dup(15) chromosome containing the Prader-Willi syndrome/Angelman syndrome region mapped within bands 15q 11-q13.
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Banco de datos:
MEDLINE
Asunto principal:
Cromosomas Humanos Par 15
/
Secuencias Repetitivas de Ácidos Nucleicos
/
Epilepsia Generalizada
/
Genes Duplicados
Tipo de estudio:
Diagnostic_studies
/
Risk_factors_studies
Límite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
Seizure
Asunto de la revista:
NEUROLOGIA
Año:
2000
Tipo del documento:
Article
País de afiliación:
Japón