Chromosomal microarray analysis of 2000 pediatric cases / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 247-251, 2016.
Artigo
em Chinês
| WPRIM
| ID: wpr-247695
ABSTRACT
<p><b>OBJECTIVE</b>To assess the feasibility of chromosomal microarray analysis(CMA) for studying the correlation between birth defects and chromosomal aberrations.</p><p><b>METHODS</b>A total of 2000 patients with birth defects were recruited for the CMA testing.</p><p><b>RESULTS</b>Five hundred twenty two patients (26.1%) were found to have chromosomal abnormalities. These included 24 cases with numerical abnormalities, 11 with mosaicisms, and 11 with uniparental disomies. The remaining 476 cases were of well-known microdeletion or microduplication syndromes. The advantage of CMA over conventional karyotyping was demonstrated in many cases.</p><p><b>CONCLUSION</b>As a powerful tool for patients with birth defects, CMA can produce a higher diagnostic yield compared with conventional karyotyping.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Cromossomos Humanos
/
Dosagem de Genes
/
Análise de Sequência com Séries de Oligonucleotídeos
/
Transtornos Cromossômicos
/
Genética
/
Cariotipagem
Limite:
Adolescente
/
Adulto
/
Criança
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Lactente
/
Masculino
/
Recém-Nascido
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2016
Tipo de documento:
Artigo
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