Female with autistic disorder and monosomy X (Turner syndrome): parent-of-origin effect of the X chromosome.

Journal Article (Journal Article)

We have ascertained and examined a patient with autistic disorder (AD) and monosomy X (Turner syndrome). The patient met Diagnostic and Statistical Manual of Mental Disorders (DSM-IV)/International Classification of Diseases (ICD-10) criteria for AD verified by the Autism Diagnostic Interview-Revised. The patient exhibited both social and verbal deficits and manifested the classical physical features associated with monosomy X. Skuse et al. [1997: Nature 387:705-708] reported three such cases of AD and monosomy X in their study of Turner syndrome and social cognition. They observed that monosomy X females with a maternally inherited X chromosome had reduced social cognition when compared with monosomy X females with a paternally inherited X chromosome. All three cases of AD and monosomy X were maternally inherited. Based on their data, they suggested that there was a gene for social cognition on the X chromosome that is imprinted and not expressed when the X chromosome is of maternal origin. Thus, we conducted parent-of-origin studies in our AD/monosomy X patient by genotyping X chromosome markers in the patient and her family. We found that the patient's X chromosome was of maternal origin. These findings represent the fourth documented case of maternal inheritance of AD and monosomy X and provide further support for the hypothesis that parent-of-origin of the X chromosome influences social cognition.

Full Text

Duke Authors

Cited Authors

  • Donnelly, SL; Wolpert, CM; Menold, MM; Bass, MP; Gilbert, JR; Cuccaro, ML; Delong, GR; Pericak-Vance, MA

Published Date

  • June 12, 2000

Published In

Volume / Issue

  • 96 / 3

Start / End Page

  • 312 - 316

PubMed ID

  • 10898907

International Standard Serial Number (ISSN)

  • 0148-7299

Digital Object Identifier (DOI)

  • 10.1002/1096-8628(20000612)96:3<312::aid-ajmg16>3.0.co;2-8


  • eng

Conference Location

  • United States