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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Robertsonian translocation 13/14 associated with rRNA genes overexpression and intellectual disability
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Robertsonian translocation 13/14 associated with rRNA genes overexpression and intellectual disability

机译：罗伯逊易位13/14与rRNA基因过度表达和智力障碍有关

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Background The Robertsonian translocations inherited from parents with a normal phenotype are often discovered through children with pathogenesis. The exact causes of pathologies in children with clinical manifestations are often unknown and vary greatly in the reported cases: uniparental disomy, de novo rearrangements, changes in methylation patterns and gene expression, including ribosomal genes. Aim of the study Molecular-cytogenetic investigation of a clinical case of intellectual disability. Material and methods GTG-banding, Ag-NOR staining, fluorescent in situ hybridization, PCR, real-time PCR. Results We describe a family case of a translocation rob (13; 14) and elevated rRNA expression in the proband with developmental delay and in his phenotypically normal mother. We show the loss of the p-arms of original chromosomes and the absence of NORs on the derived chromosome. The whole-chromosome uniparental disomy is excluded. Conclusion The translocated chromosome in the proband was most likely inherited from the mother and did not come about de novo with normal chromosomes 13 and 14 being obtained from the father. The cause of the pathogenesis in the proband still remains unknown. We hypothesize that it could be caused by impaired imprinting manifesting in altered methylation levels of loci on the derivative chromosome.
机译：背景通常从具有正常表型的父母那里继承的罗伯逊易位是通过有发病机理的儿童发现的。具有临床表现的儿童中病理的确切原因通常是未知的，在报道的病例中差异很大：单亲二体性，从头重排，甲基化模式和基因表达的变化，包括核糖体基因。研究目的分子细胞遗传学研究智障的临床案例。材料和方法GTG带，Ag-NOR染色，荧光原位杂交，PCR，实时PCR。结果我们描述了一个家庭病例，该病例发生易位抢劫（13; 14），且在发育发育延迟的先证者及其表型正常的母亲中rRNA表达升高。我们显示原始染色体的p臂的丢失和派生染色体上NORs的缺失。排除了全染色体单亲二体性。结论先证者易位染色体很可能是从母亲那里遗传的，并不是从头开始的，而正常的13和14号染色体是从父亲那里获得的。先证者的发病机理仍然未知。我们假设这可能是由于衍生染色体上基因座甲基化水平改变而导致的印迹受损所致。

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