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1p36 deletion syndrome confirmed by fluorescence in situ hybridization and array-comparative genomic hybridization analysis / 소아과
Korean Journal of Pediatrics ; : S14-S18, 2016.
Artigo em Inglês | WPRIM | ID: wpr-228472
ABSTRACT
Pediatric epilepsy can be caused by various conditions, including specific syndromes. 1p36 deletion syndrome is reported in 1 in 5,000–10,000 newborns, and its characteristic clinical features include developmental delay, mental retardation, hypotonia, congenital heart defects, seizure, and facial dysmorphism. However, detection of the terminal deletion in chromosome 1p by conventional G-banded karyotyping is difficult. Here we present a case of epilepsy with profound developmental delay and characteristic phenotypes. A 7-year- and 6-month-old boy experienced afebrile generalized seizure at the age of 5 years and 3 months. He had recurrent febrile seizures since 12 months of age and showed severe global developmental delay, remarkable hypotonia, short stature, and dysmorphic features such as microcephaly; small, low-set ears; dark, straight eyebrows; deep-set eyes; flat nasal bridge; midface hypoplasia; and a small, pointed chin. Previous diagnostic work-up, including conventional chromosomal analysis, revealed no definite causes. However, array-comparative genomic hybridization analysis revealed 1p36 deletion syndrome with a 9.15-Mb copy loss of the 1p36.33-1p36.22 region, and fluorescence in situ hybridization analysis (FISH) confirmed this diagnosis. This case highlights the need to consider detailed chromosomal study for patients with delayed development and epilepsy. Furthermore, 1p36 deletion syndrome should be considered for patients presenting seizure and moderate-to-severe developmental delay, particularly if the patient exhibits dysmorphic features, short stature, and hypotonia.
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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Fenótipo / Convulsões / Queixo / Hibridização In Situ / Convulsões Febris / Diagnóstico / Orelha / Epilepsia / Sobrancelhas / Hibridização Genômica Comparativa Tipo de estudo: Estudo diagnóstico Limite: Humanos / Lactente / Masculino / Recém-Nascido Idioma: Inglês Revista: Korean Journal of Pediatrics Ano de publicação: 2016 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Fenótipo / Convulsões / Queixo / Hibridização In Situ / Convulsões Febris / Diagnóstico / Orelha / Epilepsia / Sobrancelhas / Hibridização Genômica Comparativa Tipo de estudo: Estudo diagnóstico Limite: Humanos / Lactente / Masculino / Recém-Nascido Idioma: Inglês Revista: Korean Journal of Pediatrics Ano de publicação: 2016 Tipo de documento: Artigo