A Nine-Month-Old Boy With Isodicentric Chromosome 15: A Case Report
Annals of Rehabilitation Medicine
; : 291-294, 2013.
Artigo
em Inglês
| WPRIM (Pacífico Ocidental)
| ID: wpr-122841
Biblioteca responsável:
WPRO
ABSTRACT
Isodicentric chromosome 15 [idic(15)] is a rare chromosomal abnormality that occurs due to inverted duplication of chromosome 15q. It is associated with many clinical findings such as early central hypotonia, developmental delay, cognitive dysfunction, autism spectrum disorders, and seizure. Delayed development is a common problem referred to pediatric rehabilitation clinics. A 9-month-old boy with delayed development was referred to our clinic for assessment and treatment. On chromosomal analysis, he was diagnosed as idic(15) syndrome with 47,XY,+idic(15)(q12) on karyotyping. Herein we describe his clinical manifestations and provide a brief review of the related literature.
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Convulsões
/
Cromossomos Humanos Par 15
/
Deficiências do Desenvolvimento
/
Aberrações Cromossômicas
/
Transtorno do Espectro Autista
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Cariotipagem
/
Aneuploidia
/
Hipotonia Muscular
Limite:
Criança
Idioma:
Inglês
Revista:
Annals of Rehabilitation Medicine
Ano de publicação:
2013
Tipo de documento:
Artigo