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.
Article
Dans Chinois
| 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>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Chromosomes humains de la paire 7
/
Délétion de segment de chromosome
/
Syndrome de Williams
/
Séquençage par oligonucléotides en batterie
/
Polymorphisme de nucléotide simple
/
Génétique
Type d'étude:
Etude diagnostique
Limites du sujet:
Enfant
/
Femelle
/
Humains
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2016
Type:
Article
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