Clinical and genetic analysis of idiopathic intellectual disability based on array comparative genomic hybridization

被引：0
|
作者：
Kashevarova, A. A. [1 ]
Skryabin, N. A. [1 ]
Cheremnykh, A. D. [1 ]
Tolmacheva, E. N. [1 ]
Sazhenova, E. A. [1 ]
Salyukova, O. A. [1 ]
Chechetkina, N. N. [1 ]
Didenko, L. I. [1 ]
Sukhanova, N. N. [1 ]
Yakovleva, Yu S. [1 ]
Torkhova, N. B. [1 ]
Nazarenko, L. P. [1 ]
Magini, P. [2 ]
Graziano, C. [2 ]
Romeo, G. [2 ]
Lebedev, I. N. [1 ]
机构：
[1] Russian Acad Med Sci, Res Inst Med Genet, Siberian Branche, Tomsk, Russia
[2] Univ Bologna, I-40126 Bologna, Italy
来源：
ZHURNAL NEVROLOGII I PSIKHIATRII IMENI S S KORSAKOVA | 2013年 / 113卷 / 09期
关键词：
idiopathic intellectual disability; array comparative genomic hybridization (array CGH); copy number variation (CNV); MICRODUPLICATION SYNDROMES; MENTAL-RETARDATION; COPY NUMBER; MICRODELETION; EPILEPSY;
D O I：
暂无
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
In this study authors searched for chromosomal aberrations in 71 children with developmental delay or idiopathic mental retardation using Human Genome CGH Microarray Kits 4x44K and 8x60K (Agilent Technologies, USA). Microdeletions and microduplications, as well as CNV, which may be related to intellectual disability and associated with regions of known hereditary diseases or chromosomal syndromes were identified in 14 (20%) children (these patients are described in this article). During the analysis, candidate genes localized within the regions of aberrations and associated with development and functioning of nervous system were denoted.
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页码：70 / +
页数：5
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