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.
Artigo
em Chinês
| 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>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Cromossomos Humanos Par 4
/
Deleção de Sequência
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Deleção de Genes
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Diagnóstico
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Hibridização Genômica Comparativa
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Genética
/
Transtornos do Crescimento
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Deficiência Intelectual
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Métodos
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Criança, pré-escolar
/
Feminino
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2014
Tipo de documento:
Artigo
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