Indian Journal of Human Genetics
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ORIGINAL ARTICLE
Year : 2013  |  Volume : 19  |  Issue : 4  |  Page : 443-448

Genomic characterization of some Iranian children with idiopathic mental retardation using array comparative genomic hybridization


1 Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
2 Kariminejad and Najmabadi Pathology and Genetics Center, Tehran, Iran
3 Pediatric Neurorehabilitation Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
4 Genetics Research Center, University of Social Welfare and Rehabilitation Sciences; Department of Medical Genetics and Sarem Cell Research Center, Sarem Womens' Hospital, Iran
5 Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
6 Shahroud Welfare Organization, Shahroud, Iran

Correspondence Address:
Farkhondeh Behjati
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran
Iran
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Source of Support: This work is funded through a grant by the deputy of research of University of Social Welfare and Rehabilitation Sciences, Conflict of Interest: None


DOI: 10.4103/0971-6866.124373

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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 and Methods: 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.


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