Molecular cytogenetic analysis of a case with ring chromosome 3 syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 816-819, 2016.
Artigo
em Chinês
| WPRIM
| ID: wpr-345356
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the genetic cause for a child with developmental delay and congenital heart disease through molecular cytogenetic analysis.</p><p><b>METHODS</b>G-banded karyotyping and chromosomal microarray analysis (CMA) were performed for the patient and his parents.</p><p><b>RESULTS</b>The proband's karyotype was detected as ring chromosome 3, and a 3q26.3-25.3 deletion encompassing 45 genes has been found with CMA. Testing of both parents was normal.</p><p><b>CONCLUSION</b>Clinical phenotype of the patient with ring chromosome 3 mainly depends on the involved genes. It is necessary to combine CMA and karyotyping for the diagnosis of ring chromosome, as CMA can provide more accurate information for variations of the genome.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Cromossomos em Anel
/
Síndrome
/
Cromossomos Humanos Par 3
/
Deficiências do Desenvolvimento
/
Análise Citogenética
/
Citogenética
/
Genética
/
Cardiopatias Congênitas
/
Cariotipagem
/
Métodos
Limite:
Feminino
/
Humanos
/
Lactente
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2016
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS