title: Cognitive, behavioral, and neural consequences of sex chromosome aneuploidy.
abstract: The X chromosome has played a critical role in the development of sexually selected characteristics for over 300 million years, and during that time it has accumulated a disproportionate number of genes concerned with mental functions. There are relatively specific effects of X-linked genes on social cognition, language, emotional regulation, visuospatial, and numerical skills. Many human X-linked genes outside the X-Y pairing pseudoautosomal regions escape X-inactivation. Dosage differences in the expression of such genes (which constitute at least 15% of the total) are likely to play an important role in male-female neural differentiation, and in cognitive deficits and behavioral characteristics, particularly in the realm of social communication, that are associated with sex chromosome aneuploidies. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Great Ormond Street Hospital Institute of Child Health, University College London, United Kingdom.
authors.forename: Frida
authors.initials: F
authors.lastname: Printzlau
authors.affiliation: Great Ormond Street Hospital Institute of Child Health, University College London, United Kingdom.
authors.forename: Jeanne
authors.initials: J
authors.lastname: Wolstencroft
authors.affiliation: Great Ormond Street Hospital Institute of Child Health, University College London, United Kingdom.
authors.forename: David H
authors.initials: DH
authors.lastname: Skuse
mesh_terms: D000782:Aneuploidy; D000818:Animals; D001921:Brain / Q000473:pathology / Q000502:physiology*; D003071:Cognition / Q000502:physiology*; D006801:Humans; D001523:Mental Disorders / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D012727:Sex Characteristics; D012730:Sex Chromosomes / Q000235:genetics*; D012733:Sex Differentiation / Q000235:genetics; D012919:Social Behavior
keywords: ADHD; X chromosome; Y chromosome; autism; language