title: [Structural variations of the genome in autistic spectrum disorders with intellectual disability].
abstract: OBJECTIVE
  To analyze structural variations in the genome in children with autism and intellectual disability.
  
  
  METHODS
  Using high-resolution karyotyping (AffymetrixCytoScan HD Array) and original bioinformatic technology, 200 children with autism and intellectual disability were studied.
  
  
  CONCLUSIONS
  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.
authors: Mental Health Research Center, Moscow, Russia; Veltishev Research and Clinical Institute for Pediatrics at the Pirogov Russian National Research Medical University, Moscow, Russia; Russian Medical Academy of Postgraduate Education, Moscow, Russia.
authors: I Yu
authors: IY
authors: Iourov
authors: 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.
authors: S G
authors: SG
authors: Vorsanova
authors: Research Centre for Medical Genetics, Moscow, Russia.
authors: S A
authors: SA
authors: Korostelev
authors: 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.
authors: K S
authors: KS
authors: Vasin
authors: 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.
authors: M A
authors: MA
authors: Zelenova
authors: 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.
authors: O S
authors: OS
authors: Kurinnaia
authors: 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.
authors: Yu B
authors: YB
authors: Yurov
mesh_terms: D001321:Autistic Disorder / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations; D056915:DNA Copy Number Variations; D015894:Genome, Human; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D010641:Phenotype; D012426:Russia