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.
Artículo
en Chino
| WPRIM
| ID: wpr-232280
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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Diagnóstico Prenatal
/
Síndrome del Corazón Izquierdo Hipoplásico
/
Diagnóstico
/
Hibridación Genómica Comparativa
/
Variaciones en el Número de Copia de ADN
/
Feto
/
Genética
/
Metabolismo
/
Métodos
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
Límite:
Adulto
/
Femenino
/
Humanos
/
Embarazo
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2012
Tipo del documento:
Artículo
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