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Clinical and cytogenetic study in a child with de novo chromosome 9 abnormality / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics ; (12): 52-55, 2018.
Artigo em Chinês | WPRIM | ID: wpr-300392
ABSTRACT
This study aimed to analyze the clinical phenotype of chromosome 9p deletion or duplication and its relationship with karyotype. A patient, female, aged 6 months, visited the hospital due to motor developmental delay. Karyotype analysis identified abnormalities of chromosome 9 short arm, and high-throughput sequencing found 9p24.3-9p23 deletion and 9p23-9p13.1 duplication. Her parents had a normal karyotype. Karyotype analysis combined with high-throughput sequencing is of great significance for improving the efficiency of etiological diagnosis in children with motor developmental delay or multiple congenital deformities and mental retardation.
Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Idioma: Chinês Revista: Chinese Journal of Contemporary Pediatrics Ano de publicação: 2018 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Idioma: Chinês Revista: Chinese Journal of Contemporary Pediatrics Ano de publicação: 2018 Tipo de documento: Artigo