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
in Chinese
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Reference Standards
/
Chromosome Aberrations
/
Oligonucleotide Array Sequence Analysis
/
Polymorphism, Single Nucleotide
/
Diagnosis
/
Genome-Wide Association Study
/
DNA Copy Number Variations
/
Genetics
/
Intellectual Disability
Type of study:
Diagnostic study
Limits:
Humans
Language:
Chinese
Journal:
Journal of Zhejiang University. Medical sciences
Year:
2019
Type:
Article
Similar
MEDLINE
...
LILACS
LIS