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

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 ii;as consistent with an inverted duplication of 7p11.2-p14.1. Fluorescent in situ hybridization (FISH), using a whole chromosome 7 DNA probe (Cytocell, Inc., UR), 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 eases in the literature. This is the first report of an individual with a 7p duplication who also has AD. (C) 2001 Wiley-Liss, Inc.