title: Rearrangement in 22q11 implicated in Iranian patients with mental retardation.
abstract: Chromosome 22, particularly 22q11.2 region, is predisposed to rearrangements due to misalignments of low-copy repeats (LCRs). DiGeorge/velo-cardio-facial syndrome is a common disorder resulting from microdeletion within the same band. Although both deletion and duplication in this region are expected to occur in equal proportions as reciprocal events caused by LCR-mediated rearrangements, very few microduplications have been identified. The phenotype of these patients with microduplications is extremely diverse, ranging from normal to behavioral abnormalities to multiple defects, only some of which are reminiscent of the 22q11.2 deletion syndrome. The aim of this study was to investigate 22q11.2 microdeletion and microduplication among Iranian patients with mental retardation. For this purpose, 46 mental retarded patients who were tested negative for fragile X syndrome were involved in this study. The samples were assessed for 22q11.2 microduplication and microdeletions by Semi-Quantitative Multiplex Polymerase chain reaction (SQMPCR). MLPA was carried out to confirm the findings and to rule out other abnormalities in subtelomeric region. We found three patients with microdeletion and one with microduplication and one with 10p deletion syndrome. These findings proved evidence that microdeletion and microduplication of 22q11.2 can be a reason of mental retardation in Iranian population with unknown causes.
authors.affiliation: Department of Medical Genetics, School of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
authors.forename: Malekmohamadi
authors.initials: M
authors.lastname: Mona
authors.forename: Noruzinia
authors.initials: N
authors.lastname: Mehrdad
authors.forename: Behmanesh
authors.initials: B
authors.lastname: Mehrdad
authors.forename: Nourian
authors.initials: N
authors.lastname: Elham
authors.forename: Nastaran
authors.initials: N
authors.lastname: Khazamipour
mesh_terms: D016022:Case-Control Studies; D002872:Chromosome Deletion; D058674:Chromosome Duplication; D002892:Chromosomes, Human, Pair 22; D017931:DNA Primers; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007492:Iran; D060885:Multiplex Polymerase Chain Reaction
chemical_list: D017931:DNA Primers