Application of single nucleotide polymorphism microarray in clinical diagnosis of intellectual disability or retardation.
- Author:
Junjie HU
1
;
Yeqing QIAN
1
;
Yixi SUN
1
;
Jialing YU
1
;
Yuqin LUO
1
;
Minyue DONG
1
Author Information
1. Key Laboratory of Reproductive Genetics, Ministry of Education, Department of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, Hangzhou 310006, China.
- Publication Type:Journal Article
- MeSH:
Chromosome Aberrations;
DNA Copy Number Variations;
Genome-Wide Association Study;
Humans;
Intellectual Disability;
diagnosis;
genetics;
Oligonucleotide Array Sequence Analysis;
standards;
Polymorphism, Single Nucleotide
- From:
Journal of Zhejiang University. Medical sciences
2019;48(4):420-428
- CountryChina
- Language:Chinese
-
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.
