Application of chromosomal microarray analysis for the diagnosis of children with intellectual disability/developmental delay and a normal karytype.
- VernacularTitle:染色体微阵列分析在诊断核型分析未见异常的智力低下/发育迟滞患儿中的应用
- Author:
Ting HU
1
;
Hongmei ZHU
;
Zhu ZHANG
;
Jiamin WANG
;
Hongqian LIU
;
Xuemei ZHANG
;
Haixia ZHANG
;
Ze DU
;
Lingping LI
;
He WANG
;
Shanling LIU
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Child; Child, Preschool; DNA Copy Number Variations; Developmental Disabilities; genetics; psychology; Female; Humans; Intellectual Disability; genetics; psychology; Intelligence; Karyotype; Male; Microarray Analysis; Middle Aged; Pedigree; Young Adult
- From: Chinese Journal of Medical Genetics 2017;34(2):169-172
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo assess the value of chromosomal microarray analysis (CMA) for the diagnosis of children with intellectual disability/developmental delay (ID/DD) but a normal karytype.
METHODSPeripheral blood samples from 92 ID/DD patients were analyzed with CMA using Affymetrix CytoScan 750K arrays. The results were analyzed by ChAS v3.0 software.
RESULTSEighteen cases (19.57%) were detected with abnormalities by CMA, among which 10 cases were diagnosed with microdeletion/microduplication syndromes. These included 2 Williams-Beuren syndromes, 2 Angelman syndromes, 2 Russell-Silver syndromes, 1 Smith-Magenis syndromes, 1 Wolf-Hirschhorn syndromes, 1 15q26 overgrowth syndrome and 1 Xq28 (MECP2) duplication syndrome. In addition, 8 cases were diagnosed with pathogenic copy number variations (pCNV).
CONCLUSIONCMA can significantly improve the diagnostic rate for patients with ID/DD, which is of great value for the treatment of such children and guidance of reproduction for their parents. Therefore, CMA should become the first-line diagnostic test for patients with ID/DD.
