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

Am J Med Genet. 2001 Apr 8;105(3):222-5. doi: 10.1002/ajmg.1258.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Autistic Disorder / genetics*
  • Chromosome Banding
  • Chromosomes, Human, Pair 7 / genetics*
  • Family Health
  • Female
  • Gene Duplication*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Nuclear Family
  • Pregnancy