Application of chromosomal microarray analysis for the diagnosis of children with intellectual disability/developmental delay and a normal karytype / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 169-172, 2017.
Article
in Chinese
| WPRIM
| ID: wpr-335163
ABSTRACT
<p><b>OBJECTIVE</b>To assess the value of chromosomal microarray analysis (CMA) for the diagnosis of children with intellectual disability/developmental delay (ID/DD) but a normal karytype.</p><p><b>METHODS</b>Peripheral 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.</p><p><b>RESULTS</b>Eighteen 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).</p><p><b>CONCLUSION</b>CMA 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.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Psychology
/
Developmental Disabilities
/
Microarray Analysis
/
DNA Copy Number Variations
/
Karyotype
/
Genetics
/
Intelligence
/
Intellectual Disability
Type of study:
Diagnostic study
/
Practice guideline
Limits:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2017
Type:
Article
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