Array-based comparative genomic hybridization detection of copy number variations in a fetus with hypoplastic left-heart syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 439-442, 2012.
Article
em Zh
| WPRIM
| ID: wpr-232280
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To detect the copy number variations (CNVs) of a fetus with hypoplastic left-heart syndrome, and to assess the value of array-based comparative genomic hybridization (array-CGH) for molecular cytogenetic diagnosis.</p><p><b>METHODS</b>The whole genome of a fetus with normal karyotype by G-banding was scanned and analyzed by array-CGH, and the CNVs was confirmed by multiplex ligation-dependent probe amplification (MLPA).</p><p><b>RESULTS</b>Two submicroscopic CNVs [del(11)(q24.1-ter)(121951443-134449216, -12.50 Mb),dup(15)(q26.3)(96889082-100215359, -3.33 Mb)] were identified and mapped by array-CGH. MLPA test confirmed both CNVs.</p><p><b>CONCLUSION</b>Del (11) (q24.1-ter) may contribute to hypoplastic left-heart syndrome of the fetus. For its high-resolution and high-accuracy, array-CGH has provided a powerful tool for detection of genomic imbalance.</p>
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Diagnóstico Pré-Natal
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Síndrome do Coração Esquerdo Hipoplásico
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Diagnóstico
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Hibridização Genômica Comparativa
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Variações do Número de Cópias de DNA
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Feto
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Genética
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Metabolismo
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Métodos
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
Limite:
Adult
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Female
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Humans
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Pregnancy
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2012
Tipo de documento:
Article