Molecular diagnosis of children with unexplained intellectual disability/ developmental delay by array-CGH / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 459-463, 2015.
Article
em Zh
| WPRIM
| ID: wpr-346127
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To analyze the potential pathogenic genomic imbalance in children with unexplained intellectual disability (ID) and/or developmental delay (DD) and its association with phenotypes, and to investigate the value of array-based comparative genomic hybridization (array-CGH) in clinical molecular genetic diagnosis.</p><p><b>METHODS</b>The whole genome of 16 children with ID/DD was scanned by the array-CGH for detection of genomic copy number variations (CNVs), and the revealed genomic imbalance was confirmed by multiplex ligation-dependent probe amplification.</p><p><b>RESULTS</b>G-band karyotyping of peripheral blood cells showed no abnormalities in the 16 children. The results of the array-CGH revealed that 6 (38%) of the 16 patients had genomic CNVs, and 3 cases of CNVs were normal polymorphic changes; 1 CNV was a microdeletion of 4p16.3, which was the critical region for Wolf-Hirschhorn syndrome, and 1 CNV was a microdeletion of 7q11.23, which was the critical region for Williams-Beuren syndrome. Moreover, a CNV was identified with two duplications at 2q22.2 and 15q21.3 in a boy, which proved to have a clinical significance due to its association with ID, brain DD, unusual facies, cryptorchidism, irregular dentition, etc.</p><p><b>CONCLUSIONS</b>Array-CGH allows for the etiological diagnosis in some of the children with unexplained ID/DD. As a high-throughput and rapid tool, it has a great clinical significance in the etiological diagnosis of ID/DD.</p>
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Assunto principal:
Deficiências do Desenvolvimento
/
Diagnóstico
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Hibridização Genômica Comparativa
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Reação em Cadeia da Polimerase Multiplex
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Genética
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Deficiência Intelectual
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Métodos
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
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Child
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Female
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Humans
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Infant
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Male
Idioma:
Zh
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2015
Tipo de documento:
Article