Analysis of 22 patients with congenital cleft lip and palate using high-resolution chromosome microarray / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 433-437, 2014.
Article
en Zh
| WPRIM
| ID: wpr-291758
Biblioteca responsable:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To assess the value of chromosome microarray analysis (CMA) for identifying the etiology of patients with congenital cleft lip and palate.</p><p><b>METHODS</b>Twenty-two patients with no identifiable chromosomal aberrations by conventional cytogenetic technique were selected. DNA was extracted and hybridized with Affymetrix CytoScan(TM) HD arrays following the manufacturer's protocol. The data were analyzed with a CHAS v2.0 software.</p><p><b>RESULTS</b>CMA analysis has identified submicroscopic copy number variants (CNVs) in all of the cases, which have ranged from 100 kb to 1.8 Mb. Potential pathogenic CNVs were identified in 5 patients (22.7%), which involved microdeletions and microduplications on 8p23.1, 10q22.2-q22.3, 6q26, 20p12.1 and 18q12.3. MYST4, MACROD2 and SOX7 genes are likely the causative genes.</p><p><b>CONCLUSION</b>CMA is an effective method for identification of etiology in patients with cleft lip and palate. CMA should be provided for patients with cleft lip and palate but a normal karyotype. Especially for those with additional structural abnormalities, there is a high risk for submicroscopic chromosomal aberrations.</p>
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Aberraciones Cromosómicas
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Labio Leporino
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Fisura del Paladar
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Trastornos de los Cromosomas
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Análisis por Micromatrices
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Diagnóstico
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Variaciones en el Número de Copia de ADN
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Genética
Tipo de estudio:
Diagnostic_studies
Límite:
Child
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Child, preschool
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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 Medical Genetics
Año:
2014
Tipo del documento:
Article