Genomic characterization of some Iranian children with idiopathic mental retardation using array comparative genomic hybridization.
Indian J Hum Genet
;
2013 Oct-Dec ;19 (4): 443-448
Artigo
em Inglês
| IMSEAR
| ID: sea-156611
ABSTRACT
BACKGROUND:
Mental retardation (MR) has a prevalence of 1‑3% and genetic causes are present in more than 50% of patients. Chromosomal abnormalities are one of the most common genetic causes of MR and are responsible for 4‑28% of mental retardation. However, the smallest loss or gain of material visible by standard cytogenetic is about 4 Mb and for smaller abnormalities, molecular cytogenetic techniques such as array comparative genomic hybridization (array CGH) should be used. It has been shown that 15‑25% of idiopathic MR (IMR) has submicroscopic rearrangements detectable by array CGH. In this project, the genomic abnormalities were investigated in 32 MR patients using this technique. MATERIALS ANDMETHODS:
Patients with IMR with dysmorphism were investigated in this study. Karyotype analysis, fragile X and metabolic tests were first carried out on the patients. The copy number variation was then assessed in a total of 32 patients with normal results for the mentioned tests using whole genome oligo array CGH. Multiple ligation probe amplification was carried out as a confirmation test.RESULTS:
In total, 19% of the patients showed genomic abnormalities. This is reduced to 12.5% once the two patients with abnormal karyotypes (upon re‑evaluation) are removed.CONCLUSION:
The array CGH technique increased the detection rate of genomic imbalances in our patients by 12.5%. It is an accurate and reliable method for the determination of genomic imbalances in patients with IMR and dysmorphism.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Anormalidades Congênitas
/
Feminino
/
Humanos
/
Masculino
/
Criança
/
Pré-Escolar
/
Adolescente
/
Transtornos Cromossômicos
/
Hibridização Genômica Comparativa
/
Variação Estrutural do Genoma
Tipo de estudo:
Estudo diagnóstico
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Indian J Hum Genet
Ano de publicação:
2013
Tipo de documento:
Artigo
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