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Application of chromosome microarray analysis in 489 children with developmental delay/intellectual disability / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 528-533, 2017.
Article in Chinese | WPRIM | ID: wpr-335090
ABSTRACT
<p><b>OBJECTIVE</b>To assess the value of chromosome microarray analysis (CMA) for identifying the etiology of developmental delay/intellectual disability (DD/ID).</p><p><b>METHODS</b>A total of 489 children referred for DD/ID with or without other abnormalities were recruited. All patients showed a normal karyotype. DNA was extracted and hybridized with Affymetrix CytoScan 750K array by following the manufacturer's protocol. The data was analyzed with CHAS v2.0 software.</p><p><b>RESULTS</b>The children were classified as with isolated DD/ID (n=358), DD/ID with epilepsy (n=49), and DD/ID with other structural anomalies (n=82). Pathogenic copy number variants (CNVs) were identified in 126 cases (25.8%), which included 89 (24.9%, 89/358) of whose with isolated DD/ID, 13 (26.5%, 13/49) of those with DD/ID and epilepsy, and 24 (29.3%, 24/82) of whose with DD/ID and other structural anomalies [P=0.064 (24.9% vs. 26.5%), P=0.679 (24.9% vs. 29.3%), and P=0.113 (26.5% vs. 29.3%), respectively]. Among the 126 cases, 79 were identified as microdeletion/microduplication syndromes, which included 15q24 microdeletion syndrome, Xq28 microduplication syndrome, and Lowe syndrome. Forty-seven cases had de novo pathogenic CNVs. ABAT, PMM2, FTSJ1, DYNC1H1 and SETBP1 were considered as candidate genes for DD/ID.</p><p><b>CONCLUSION</b>CMA is an effective method for identifying the etiology of DD/ID and is capable of identifying microdeletion/microduplication syndromes as well as de novo pathogenic CNVs which may be missed by conventional karyotyping. Based on the results, candidate genes for DD/ID may be identified.</p>
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Full text: Available Index: WPRIM (Western Pacific) Main subject: Developmental Disabilities / Chromosomes / Genetics / Karyotyping / Intellectual Disability / Methods Limits: Child / Child, preschool / Female / Humans / Infant / Male Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2017 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Developmental Disabilities / Chromosomes / Genetics / Karyotyping / Intellectual Disability / Methods Limits: Child / Child, preschool / Female / Humans / Infant / Male Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2017 Type: Article