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.
Article
Dans Chinois
| 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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Normes de référence
/
Aberrations des chromosomes
/
Séquençage par oligonucléotides en batterie
/
Polymorphisme de nucléotide simple
/
Diagnostic
/
Étude d'association pangénomique
/
Variations de nombre de copies de segment d'ADN
/
Génétique
/
Déficience intellectuelle
Type d'étude:
Etude diagnostique
Limites du sujet:
Humains
langue:
Chinois
Texte intégral:
Journal of Zhejiang University. Medical sciences
Année:
2019
Type:
Article
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