Abstract:
ObjectiveTo explore the clinical application value of chromosomal microarray analysis(CMA) in the genetic diagnosis of neurodevelopmental disabilities(NDDs).
MethodsThe peripheral blood samples were collected for genomic DNA extracting and CMA detecting.The results were analyzed using ChASv3.0 software and related informatics databases.
ResultsA total of 22 cases(22.00%, 22/100) with chromosome copy number variations(CNVs) were detected, 14 cass(14/100, 14.00%) with pathological and possibly pathogenic variation were found, and 14 microdeletions (including 1q21.1q21.2, 6p22.3, 7q11.23, 7q11.23, 7q31.1, 8p23.3p23.1, 9q34.3, 10q26.13q26.3, 15q11.2q13.2, 15q11.2q13.1, 15q11.2q13.1, Xp22.32p22.31, Xp22.33p11.23 and Xq21.1q28) and 3 microduplications(including 2q36.3q37.3, 9q34.12q34.3 and 8q24.23q24.3) were involved in 17 cases with pathogenic or likely pathogenic CNVs.The unexplained variations with clinical significance in 8 cases(8/100, 8.00%) were found.No obvious chromosomal abnormalities were found in 78 children, and the detection success rate of samples was 100%.
ConclusionsThe CNVs are one of the important genetic factors leading to NDDs.CMA can detect the chromosomal abnormalities, and find numerous microdeletions or microduplications which cannot be found traditional karyotype analysis, the sensitivity, specificity and reliability of detection are greatly improved.
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