De novo partial duplication of chromosome 7p in a male with autistic disorder.
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
Pubmed Central ID
- 11353439
International Standard Serial Number (ISSN)
- 0148-7299
Digital Object Identifier (DOI)
- 10.1002/ajmg.1258
Language
- eng
Conference Location
- United States