[Application of single nucleotide polymorphism microarray in clinical diagnosis of intellectual disability or retardation].
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 48(4): 420-428, 2019 06 25.
Article
em Zh
| MEDLINE
| ID: mdl-31901047
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:
1
Base de dados:
MEDLINE
Assunto principal:
Análise de Sequência com Séries de Oligonucleotídeos
/
Polimorfismo de Nucleotídeo Único
/
Deficiência Intelectual
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Humans
Idioma:
Zh
Ano de publicação:
2019
Tipo de documento:
Article