Genotype and phenotype analysis of two patients with Williams syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 68-70, 2016.
Article
Dans Chinois
| WPRIM
| ID: wpr-247733
ABSTRACT
<p><b>OBJECTIVE</b>To perform genetic analysis for two patients with supravalvular aortic stenosis and unusual facial features.</p><p><b>METHODS</b>Cytogenetic and molecular genetic methods including chromosome karyotyping, multiplex ligation-dependent probe amplification (MLPA) and single nucleotide polymorphism array (SNP-array) were performed to detect potential mutation in the patients.</p><p><b>RESULTS</b>No abnormal karyotype was detected in either patient. Deletions in 7q11.23 region (1.36 Mb and 1.73 Mb, respectively) were discovered by SNP-array for the two patients. In both patients, de novo heterozygous deletion of ELN and LIMK1 genes was confirmed by MLPA analysis.</p><p><b>CONCLUSION</b>The genotypes of the two patients were identified by molecular genetic analysis, which has facilitated interpretation of the phenotypes of these patient. According to the deletion mutation, prenatal diagnosis for the family could be performed in the future.</p>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Phénotype
/
Chromosomes humains de la paire 7
/
Délétion de segment de chromosome
/
Syndrome de Williams
/
Lim Kinases
/
Génétique
/
Génotype
Type d'étude:
Étude pronostique
Limites du sujet:
Enfant
/
Femelle
/
Humains
/
Bébé
/
Mâle
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2016
Type:
Article
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