A case of isodicentric chromosome 15 presented with epilepsy and developmental delay / 소아과
Korean Journal of Pediatrics
; : 487-490, 2012.
Article
em En
| WPRIM
| ID: wpr-155870
Biblioteca responsável:
WPRO
ABSTRACT
We report a case of isodicentric chromosome 15 (idic(15) chromosome), the presence of which resulted in uncontrolled seizures, including epileptic spasms, tonic seizures, and global developmental delay. A 10-month-old female infant was referred to our pediatric neurology clinic because of uncontrolled seizures and global developmental delay. She had generalized tonic-clonic seizures since 7 months of age. At referral, she could not control her head and presented with generalized hypotonia. Her brain magnetic resonance imaging scans and metabolic evaluation results were normal. Routine karyotyping indicated the presence of a supernumerary marker chromosome of unknown origin (47, XX +mar). An array-comparative genomic hybridization (CGH) analysis revealed amplification from 15q11.1 to 15q13.1. Subsequent fluorescence in situ hybridization analysis confirmed a idic(15) chromosome. Array-CGH analysis has the advantage in determining the unknown origin of a supernumerary marker chromosome, and could be a useful method for the genetic diagnosis of epilepsy syndromes associated with various chromosomal aberrations.
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Base de dados:
WPRIM
Assunto principal:
Encaminhamento e Consulta
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Convulsões
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Espasmo
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Cromossomos Humanos Par 15
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Encéfalo
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Imageamento por Ressonância Magnética
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Aberrações Cromossômicas
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Hibridização In Situ
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Epilepsia
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Fluorescência
Limite:
Female
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Humans
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Infant
Idioma:
En
Ano de publicação:
2012
Tipo de documento:
Article