Application of single nucleotide polymorphism-array for the diagnosis of Williams-Beuren syndrome in a case / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 505-507, 2016.
Artigo
em Chinês
| WPRIM
| ID: wpr-247647
ABSTRACT
<p><b>OBJECTIVE</b>To apply single nucleotide polymorphism array (SNP-array) for the diagnosis of Williams-Beuren syndrome (WBS) in a patient.</p><p><b>METHODS</b>Chromosome G-banding and SNP-array were used to analyze a girl featuring mental retardation.</p><p><b>RESULTS</b>The karyotypes of the child and her parents were all normal, but SNP-array showed a 1.9 Mb deletion at 7q11.23 in the patient. The same deletion was not found in her parents.</p><p><b>CONCLUSION</b>The mental retardation and special facies of the girl were probably due to the 7q11.23 microdeletion. SNP-array has an important value for the diagnosis of mental retardation.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Cromossomos Humanos Par 7
/
Deleção Cromossômica
/
Síndrome de Williams
/
Análise de Sequência com Séries de Oligonucleotídeos
/
Polimorfismo de Nucleotídeo Único
/
Genética
Tipo de estudo:
Estudo diagnóstico
Limite:
Criança
/
Feminino
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2016
Tipo de documento:
Artigo
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