Genomic characterization of some Iranian children with idiopathic mental retardation using array comparative genomic hybridization.
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Date
2013-10
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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 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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Keywords
Array comparative genomic hybridization, chromosome abnormality, dysmorphism, genomic variation, idiopathic mental retardation
Citation
Behjati Farkhondeh , Firouzabadi Saghar Ghasemi, Kariminejad Roxana, Vameghi Roshanak, Sajedi Firouzeh, Shafaghati Yousef, Ghasemlou Behruz Ebrahimizade, Shojaei Azadeh, Jamali Peyman, Bahman Ideh, Najmabadi Hossein. Genomic characterization of some Iranian children with idiopathic mental retardation using array comparative genomic hybridization. Indian Journal of Human Genetics. 2013 Oct-Dec ;19 (4): 443-448.