Pathologic Genomic Rearrangements in Idiopathic Mentally Ret | 46269

Journal of Neurology & Neurophysiology

ISSN - 2155-9562


Pathologic Genomic Rearrangements in Idiopathic Mentally Retarded Patients from Iran

Farzane Bahari, Mohammad Taghi Akbari, Fatemeh Omrani Tabarestani, Faravareh Khordadpoor Deilamani, Gholam Reza Babamohamadi, Shokouholsadat Mahdavi and Shohre Zare Karizi

Background: Mental retardation is a relatively frequent disorder and occurs in 1-3% of the general population.
Chromosomal rearrangements involving microdeletion and microduplication particularly in subtelomeric regions are
involved as a significant cause of idiopathic mental retardation. This study was designed to detect these aberrations
in the Iranian patients with idiopathic mental retardation.
Seventy six patients with unexplained MR, a normal conventional karyotype and negative for fragile X without a
clinically recognizable syndrome were included in our study. We used a combination of MLPA kits procured from
MRC Holland to increase the detection rate of chromosomal abnormalities in idiopathic MR patients. These kits
included P036 and P070 for subtelomeric screening, and in addition P064 and P096 for the 16 common
microdeletion syndromes.
Results: The MLPA analysis revealed chromosomal aberrations in 8 cases.
Conclusion: Using the combination of four MLPA kits the rate of chromosomal abnormality detection in our study
was 10.52% which confirms the previous published findings.