Your browser doesn't support javascript.
loading
Array comparative genomic hybridization detection of a de novo 4q21.21-q22.1 deletion in a child with severe growth retardation / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 52-55, 2014.
Artículo en Chino | WPRIM | ID: wpr-254510
ABSTRACT
<p><b>OBJECTIVE</b>To analyze a child with developmental delay, severe mental retardation, speech delay and muscular hypotonia.</p><p><b>METHODS</b>The karotypes of the child and her parents were analyzed with G-banding analysis. Their genome DNA was also analyzed with array comparative genomic hybridization (array-CGH).</p><p><b>RESULTS</b>No karyotypic abnormality was detected at cytogenetic level. However, array-CGH has identified a de novo 4q21.21-q22.1 deletion in the child, which has a size of 12.1 Mb.</p><p><b>CONCLUSION</b>The de novo interstitial 4q21.21-q22.1 deletion probably underlies the main clinical manifestation in the child. Array-CGH is useful for diagnosing children with multiple congenital anomalies with unclear etiology.</p>
Asunto(s)
Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Cromosomas Humanos Par 4 / Eliminación de Secuencia / Eliminación de Gen / Diagnóstico / Hibridación Genómica Comparativa / Genética / Trastornos del Crecimiento / Discapacidad Intelectual / Métodos Tipo de estudio: Estudio diagnóstico / Estudio pronóstico Límite: Child, preschool / Femenino / Humanos Idioma: Chino Revista: Chinese Journal of Medical Genetics Año: 2014 Tipo del documento: Artículo

Similares

MEDLINE

...
LILACS

LIS

Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Cromosomas Humanos Par 4 / Eliminación de Secuencia / Eliminación de Gen / Diagnóstico / Hibridación Genómica Comparativa / Genética / Trastornos del Crecimiento / Discapacidad Intelectual / Métodos Tipo de estudio: Estudio diagnóstico / Estudio pronóstico Límite: Child, preschool / Femenino / Humanos Idioma: Chino Revista: Chinese Journal of Medical Genetics Año: 2014 Tipo del documento: Artículo