title: De novo partial duplication of chromosome 7p in a male with autistic disorder.
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.
authors.affiliation: Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA.
authors.forename: C M
authors.initials: CM
authors.lastname: Wolpert
authors.forename: S L
authors.initials: SL
authors.lastname: Donnelly
authors.forename: M L
authors.initials: ML
authors.lastname: Cuccaro
authors.forename: D J
authors.initials: DJ
authors.lastname: Hedges
authors.forename: C P
authors.initials: CP
authors.lastname: Poole
authors.forename: H H
authors.initials: HH
authors.lastname: Wright
authors.forename: J R
authors.initials: JR
authors.lastname: Gilbert
authors.forename: M A
authors.initials: MA
authors.lastname: Pericak-Vance
mesh_terms: D000328:Adult; D001321:Autistic Disorder / Q000235:genetics*; D002871:Chromosome Banding; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D005192:Family Health; D005260:Female; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009679:Nuclear Family; D011247:Pregnancy