De novo partial duplication of chromosome 7p in a male with autistic disorder.

Journal Article (Journal Article)

We describe a de novo partial duplication of 7p in a 25-year-old male with autistic disorder (AD). High-resolution chromosome analysis revealed an extra segment added to the proximal short arm of chromosome 7. The G-band pattern was consistent with an inverted duplication of 7p11.2-p14.1. Fluorescent in situ hybridization (FISH), using a whole chromosome 7 DNA probe (Cytocell, Inc., UK), confirmed that the extra chromosome material is derived from chromosome 7, indicating that the patient is partially trisomic for a region of the short arm of chromosome 7. Partial duplication of the short arm of chromosome 7 is uncommon with little more than 30 cases in the literature. This is the first report of an individual with a 7p duplication who also has AD.

Full Text

Duke Authors

Cited Authors

  • Wolpert, CM; Donnelly, SL; Cuccaro, ML; Hedges, DJ; Poole, CP; Wright, HH; Gilbert, JR; Pericak-Vance, MA

Published Date

  • April 8, 2001

Published In

Volume / Issue

  • 105 / 3

Start / End Page

  • 222 - 225

PubMed ID

  • 11353439

International Standard Serial Number (ISSN)

  • 0148-7299

Digital Object Identifier (DOI)

  • 10.1002/ajmg.1258


  • eng

Conference Location

  • United States