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Kashevarova A.A.

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

Skriabin N.A.

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

Cheremnykh A.D.

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

Tolmacheva E.N.

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

Sazhenova E.A.

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

Saliukova O.A.

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

Chechetkina N.N.

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

Didenko L.I.

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

Sukhanova N.N.

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

Iakovleva Iu.S.

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

Torkhova N.B.

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

Nazarenko L.P.

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

Magini P.

Universitet Bolon'i, Bolon'ia, Italiia

Graziano C.

Universitet Bolon'i, Bolon'ia, Italiia

Romeo G.

Universitet Bolon'i, Bolon'ia, Italiia

Lebedev I.N.

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

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

Authors:

Kashevarova A.A., Skriabin N.A., Cheremnykh A.D., Tolmacheva E.N., Sazhenova E.A., Saliukova O.A., Chechetkina N.N., Didenko L.I., Sukhanova N.N., Iakovleva Iu.S., Torkhova N.B., Nazarenko L.P., Magini P., Graziano C., Romeo G., Lebedev I.N.

More about the authors

Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2013;113(9): 70‑74

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To cite this article:

Kashevarova AA, Skriabin NA, Cheremnykh AD, et al. . Clinical and genetic analysis of idiopathic intellectual disability based on array comparative genomic hybridization. S.S. Korsakov Journal of Neurology and Psychiatry. 2013;113(9):70‑74. (In Russ.)

 
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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.

Keywords:

idiopathic intellectual disability
array comparative genomic hybridization (array CGH)
copy number variation (CNV)

Authors:

Kashevarova A.A.

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

Skriabin N.A.

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

Cheremnykh A.D.

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

Tolmacheva E.N.

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

Sazhenova E.A.

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

Saliukova O.A.

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

Chechetkina N.N.

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

Didenko L.I.

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

Sukhanova N.N.

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

Iakovleva Iu.S.

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

Torkhova N.B.

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

Nazarenko L.P.

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

Magini P.

Universitet Bolon'i, Bolon'ia, Italiia

Graziano C.

Universitet Bolon'i, Bolon'ia, Italiia

Romeo G.

Universitet Bolon'i, Bolon'ia, Italiia

Lebedev I.N.

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

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