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 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.
Wolpert
C M
CM
Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA.
Donnelly
S L
SL
Cuccaro
M L
ML
Hedges
D J
DJ
Poole
C P
CP
Wright
H H
HH
Gilbert
J R
JR
Pericak-Vance
M A
MA
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