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

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dc.contributor.authorBehjati, Farkhondeh
dc.contributor.authorFirouzabadi, Saghar Ghasemi
dc.contributor.authorKariminejad, Roxana
dc.contributor.authorVameghi, Roshanak
dc.contributor.authorSajedi, Firouzeh
dc.contributor.authorShafaghati, Yousef
dc.contributor.authorGhasemlou, Behruz Ebrahimizade
dc.contributor.authorShojaei, Azadeh
dc.contributor.authorJamali, Peyman
dc.contributor.authorBahman, Ideh
dc.contributor.authorNajmabadi, Hossein
dc.date.accessioned2015-03-05T09:31:23Z
dc.date.available2015-03-05T09:31:23Z
dc.date.issued2013-10
dc.description.abstractBACKGROUND: 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.en_US
dc.identifier.citationBehjati 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.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/156611
dc.language.isoenen_US
dc.source.urihttps://www.ijhg.com/article.asp?issn=0971-6866;year=2013;volume=19;issue=4;spage=443;epage=448;aulast=Behjatien_US
dc.subjectArray comparative genomic hybridizationen_US
dc.subjectchromosome abnormalityen_US
dc.subjectdysmorphismen_US
dc.subjectgenomic variationen_US
dc.subjectidiopathic mental retardationen_US
dc.subject.meshAdolescent
dc.subject.meshChild, Preschool
dc.subject.meshChild
dc.subject.meshChromosome Disorders --genetics
dc.subject.meshComparative Genomic Hybridization --methods
dc.subject.meshCongenital Abnormalities --genetics
dc.subject.meshFemale
dc.subject.meshGenomic Structural Variation
dc.subject.meshHumans
dc.subject.meshIntellectual Disability --epidemiology
dc.subject.meshIntellectual Disability --genetics
dc.subject.meshIran --epidemiology
dc.subject.meshMale
dc.subject.meshMental Disorders --classification
dc.subject.meshMental Disorders --epidemiology
dc.subject.meshMental Disorders --genetics
dc.titleGenomic characterization of some Iranian children with idiopathic mental retardation using array comparative genomic hybridization.en_US
dc.typeArticleen_US
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