Application of single nucleotide polymorphism microarray in clinical diagnosis of intellectual disability or retardation / 浙江大学学报·医学版
Journal of Zhejiang University. Medical sciences
;
(6): 420-428, 2019.
Artículo
en Chino
| WPRIM
| ID: wpr-819031
ABSTRACT
OBJECTIVE@#To assess the clinical application of single nucleotide polymorphism microarray (SNP array) in patients with intellectual disability/developmental delay(ID/DD).@*METHODS@#SNP array was performed to detect genome-wide DNA copy number variants (CNVs) for 145 patients with ID/DD in Women's Hospital, Zhejiang University School of Medicine from January 2013 to June 2018. The CNVs were analyzed by CHAS software and related databases.@*RESULTS@#Among 145 patients, pathogenic chromosomal abnormalities were detected in 32 cases, including 26 cases of pathogenic CNVs and 6 cases of likely pathogenic CNVs. Meanwhile, 18 cases of uncertain clinical significance and 14 cases of likely benign were identified, no significant abnormalities were found in 81 cases (including benign).@*CONCLUSIONS@#SNP array is effective for detecting chromosomal abnormalities in patients with ID/DD with high efficiency and resolution.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Estándares de Referencia
/
Aberraciones Cromosómicas
/
Análisis de Secuencia por Matrices de Oligonucleótidos
/
Polimorfismo de Nucleótido Simple
/
Diagnóstico
/
Estudio de Asociación del Genoma Completo
/
Variaciones en el Número de Copia de ADN
/
Genética
/
Discapacidad Intelectual
Tipo de estudio:
Estudio diagnóstico
Límite:
Humanos
Idioma:
Chino
Revista:
Journal of Zhejiang University. Medical sciences
Año:
2019
Tipo del documento:
Artículo
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