Unexplained autism is frequently associated with low-level mosaic aneuploidy.

  title={Unexplained autism is frequently associated with low-level mosaic aneuploidy.},
  author={Yu B Yurov and S. G. Vorsanova and Ivan Y. Iourov and Irina A. Demidova and Alphia K Beresheva and Viktor S Kravetz and V. V. Monakhov and Alexei D. Kolotii and Victoria Y Voinova-Ulas and Nataliya L Gorbachevskaya},
  journal={Journal of medical genetics},
  volume={44 8},
BACKGROUND Autism is a common childhood neurodevelopmental disorder with a possible genetic background. About 5-10% of autism cases are associated with chromosomal abnormalities or monogenic disorders. However, the role of subtle genomic imbalances in autism has not been delineated. This study aimed to investigate a hypothesis suggesting autism to be associated with subtle genomic imbalances presenting as low-level chromosomal mosaicism. METHODS We surveyed stochastic (background) aneuploidy… CONTINUE READING


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