Zhejiang Da Xue Xue Bao Yi Xue Ban. 2019 Jun 25;48(4):420-428.

[Application of single nucleotide polymorphism microarray in clinical diagnosis of intellectual disability or retardation].

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences

[Article in Chinese]
Junjie Hu, Yeqing Qian, Yixi Sun, Jialing Yu, Yuqin Luo, Minyue Dong

PMID: 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.

MeSH terms

• Chromosome Aberrations
• DNA Copy Number Variations
• Genome-Wide Association Study
• Humans
• Intellectual Disability* / diagnosis
• Intellectual Disability* / genetics
• Oligonucleotide Array Sequence Analysis* / standards
• Polymorphism, Single Nucleotide*

Publication Types

• Journal Article