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

A A Kashevarova; N A Skryabin; A D Cheremnykh; E N Tolmacheva; E A Sazhenova; O A Salyukova; N N Chechetkina; L I Didenko; N N Sukhanova; Yu S Yakovleva; N B Torkhova; L P Nazarenko; P Magini; C Graziano; G Romeo; I N Lebedev

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

Zh Nevrol Psikhiatr Im S S Korsakova. 2013;113(9):70-4.

[Article in Russian]

Authors

A A Kashevarova¹, N A Skryabin, A D Cheremnykh, E N Tolmacheva, E A Sazhenova, O A Salyukova, N N Chechetkina, L I Didenko, N N Sukhanova, Yu S Yakovleva, N B Torkhova, L P Nazarenko, P Magini, C Graziano, G Romeo, I N Lebedev

Affiliation

¹ Nauchno-issledovatel'skiĭ institut meditsinskoĭ genetiki Sibirskogo otdeleniia RAMN, Tomsk.

PMID: 24107884

Abstract

In this study authors searched for chromosomal aberrations in 71 children with developmental delay or idiopathic mental retardation using Human Genome CGH Microarray Kits 4×44K and 8×60K (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.

Publication types

Case Reports
English Abstract

MeSH terms

Adolescent
Child
Comparative Genomic Hybridization*
Female
Gene Deletion
Gene Duplication
Humans
Intellectual Disability / diagnosis
Intellectual Disability / genetics*
Male