Genetic analysis of a child with XYY syndrome mainly featuring mental retardation / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 686-689, 2016.
Artigo
em Chinês
| WPRIM
| ID: wpr-345379
ABSTRACT
<p><b>OBJECTIVE</b>To explore the genetic cause for a boy featuring mainly with mental retardation.</p><p><b>METHODS</b>G-banding karyotyping and fluorescence in situ hybridization (FISH) were carried out for the child and his parents. The child was also analyzed with chromosome microarray (CMA). Suspected microdeletion was validated with quantitative PCR.</p><p><b>RESULTS</b>The proband was found to have a 47,XYY karyotype by both chromosome and FISH analyses, while both of his parents had a normal karyotype. CMA suggested that the proband had one copy of X chromosome and two copies of Y chromosome. In addition, CMA has also detected deletion of the KYNU gene (mapped at 2q22.2), which could be pathogenic. The result was confirmed by qPCR.</p><p><b>CONCLUSION</b>For its high resolution, CMA can be used to identify potential microdeletion/duplications among children with chromosome aneuploidy and unusual phenotypes.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Cariótipo XYY
/
Bandeamento Cromossômico
/
Hibridização in Situ Fluorescente
/
Análise de Sequência com Séries de Oligonucleotídeos
/
Polimorfismo de Nucleotídeo Único
/
Transtornos dos Cromossomos Sexuais
/
Diagnóstico
/
Genética
/
Cariotipagem
/
Deficiência Intelectual
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Adulto
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2016
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS