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Iurov I.Iu.

Nauchnyĭ tsentr psikhicheskogo zdorov'ia RAMN, Moskva;
Moskovskiĭ NII pediatrii i detskoĭ khirurgii Minzdrava RF, Moskva;
Moskovskiĭ gorodskoĭ psikhologo-pedagogicheskiĭ universitet, Moskva

Vorsanova S.G.

Nauchnyĭ tsentr psikhicheskogo zdorov'ia RAMN, Moskva;
Moskovskiĭ NII pediatrii i detskoĭ khirurgii Minzdrava RF, Moskva;
Moskovskiĭ gorodskoĭ psikhologo-pedagogicheskiĭ universitet, Moskva

Korostelev S.A.

Research Centre for Medical Genetics, Moscow, Russia

Vasin K.S.

Mental Health Research Center, Moscow, Russia;
Veltishev Research and Clinical Institute for Pediatrics at the Pirogov Russian National Research Medical University, Moscow, Russia;
Moscow State University of Psychology and Education, Moscow, Russia

Zelenova M.A.

FGBU "Nauchnyĭ tsentr psikhicheskogo zdorov'ia RAMN", Moskva;
FGBU "Moskovskiĭ NII pediatrii i detskoĭ khirurgii Minzdrava Rossii", Moskva;
Moskovskiĭ gorodskoĭ psikhologo-pedagogicheskiĭ universitet, Moskva

Kurinnaia O.S.

Nauchnyĭ tsentr psikhicheskogo zdorov'ia RAMN, Moskva;
Moskovskiĭ NII pediatrii i detskoĭ khirurgii Minzdrava RF, Moskva;
Moskovskiĭ gorodskoĭ psikhologo-pedagogicheskiĭ universitet, Moskva

Iurov Iu.B.

Nauchnyĭ tsentr psikhicheskogo zdorov'ia RAMN, Moskva;
Moskovskiĭ NII pediatrii i detskoĭ khirurgii Minzdrava RF, Moskva;
Moskovskiĭ gorodskoĭ psikhologo-pedagogicheskiĭ universitet, Moskva

Structural variations of the genome in autistic spectrum disorders with intellectual disability

Authors:

Iurov I.Iu., Vorsanova S.G., Korostelev S.A., Vasin K.S., Zelenova M.A., Kurinnaia O.S., Iurov Iu.B.

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Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2016;116(7): 50‑54

DOI: 10.17116/jnevro20161167150-54

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Table of contents

STRUCTURAL VARIATIONS OF THE GENOME IN AUTISTIC SPECTRUM DISORDERS WITH INTELLECTUAL DISABILITY
STRUCTURAL VARIATIONS OF THE GENOME IN AUTISTIC SPECTRUM DISORDERS WITH INTELLECTUAL DISABILITY

To cite this article:

Iurov IIu, Vorsanova SG, Korostelev SA, Vasin KS, Zelenova MA, Kurinnaia OS, Iurov IuB. Structural variations of the genome in autistic spectrum disorders with intellectual disability. S.S. Korsakov Journal of Neurology and Psychiatry. 2016;116(7):50‑54. (In Russ.)
https://doi.org/10.17116/jnevro20161167150-54

Подписка 2026 Журнал неврологии и психиатрии им. С.С. Корсакова (S.S. Korsakov Journal of Neurology and Psychiatry)
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Abstract:

Objective. To analyze structural variations in the genome in children with autism and intellectual disability. Materials and methods. Using high-resolution karyotyping (AffymetrixCytoScan HD Array) and original bioinformatic technology, 200 children with autism and intellectual disability were studied. Results and conclusion. Data on structural variations in the genome in children with autism and intellectual disability are provided. Causative genomic pathology (chromosome abnormalities and copy number variations - CNV) was determined in 97 cases (48.5%). Based on these results, 24 candidate genes for autism with intellectual disability were selected. In 16 cases (8%), the chromosome mosaicism manifested as aneuploidy of whole autosomes and sex chromosomes (gonosomes) was identified. In 87 children (43.5%), there were genomic variations, which are characteristic of the so-called «grey zone» of genetic pathology in mental illnesses. Bioinformatic analysis showed that these genomic variations had a pleiotropic effect on the phenotype.

Keywords:

autistic spectrum disorders
intellectual disability
molecular karyotyping
chromosomes
genomic variations
bioinformatic analysis
candidate genes

Authors:

Iurov I.Iu.

Nauchnyĭ tsentr psikhicheskogo zdorov'ia RAMN, Moskva;
Moskovskiĭ NII pediatrii i detskoĭ khirurgii Minzdrava RF, Moskva;
Moskovskiĭ gorodskoĭ psikhologo-pedagogicheskiĭ universitet, Moskva

Vorsanova S.G.

Nauchnyĭ tsentr psikhicheskogo zdorov'ia RAMN, Moskva;
Moskovskiĭ NII pediatrii i detskoĭ khirurgii Minzdrava RF, Moskva;
Moskovskiĭ gorodskoĭ psikhologo-pedagogicheskiĭ universitet, Moskva

Korostelev S.A.

Research Centre for Medical Genetics, Moscow, Russia

Vasin K.S.

Mental Health Research Center, Moscow, Russia;
Veltishev Research and Clinical Institute for Pediatrics at the Pirogov Russian National Research Medical University, Moscow, Russia;
Moscow State University of Psychology and Education, Moscow, Russia

Zelenova M.A.

FGBU "Nauchnyĭ tsentr psikhicheskogo zdorov'ia RAMN", Moskva;
FGBU "Moskovskiĭ NII pediatrii i detskoĭ khirurgii Minzdrava Rossii", Moskva;
Moskovskiĭ gorodskoĭ psikhologo-pedagogicheskiĭ universitet, Moskva

Kurinnaia O.S.

Nauchnyĭ tsentr psikhicheskogo zdorov'ia RAMN, Moskva;
Moskovskiĭ NII pediatrii i detskoĭ khirurgii Minzdrava RF, Moskva;
Moskovskiĭ gorodskoĭ psikhologo-pedagogicheskiĭ universitet, Moskva

Iurov Iu.B.

Nauchnyĭ tsentr psikhicheskogo zdorov'ia RAMN, Moskva;
Moskovskiĭ NII pediatrii i detskoĭ khirurgii Minzdrava RF, Moskva;
Moskovskiĭ gorodskoĭ psikhologo-pedagogicheskiĭ universitet, Moskva

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