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.
Artigo
em Chinês
| 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>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Cromossomos Humanos Par 7
/
Deleção Cromossômica
/
Síndrome de Williams
/
Quinases Lim
/
Genética
/
Genótipo
Tipo de estudo:
Estudo prognóstico
Limite:
Criança
/
Feminino
/
Humanos
/
Lactente
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2016
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS