Brief report: A case of autism associated with del(2)(q32.1q32.2) or (q32.2q32.3).
Autism is a neurodevelopmental disorder presenting in the first 3 years of life. Deficits occur in the three core areas of communication, social interaction, and behavior. The causes of autism are unknown, but clinical genetic studies show strong evidence in favor of a genetic etiology. Molecular genetic studies report some association with candidate genes, and candidate regions have emerged from several genome-wide linkage studies. Here we report a clinical case of autism with a deletion on chromosome 2 in a young male with high-functioning autism. The deletion seems to correspond with regions emerging from linkage studies. We propose this as a possible candidate region in the search for autism genes.
Gallagher
Louise
L
Department of Psychiatry, Trinity College, Dublin, Republic of Ireland. lgallagh@tcd.ie
Becker
Kristin
K
Kearney
Geraldine
G
Dunlop
Adam
A
Stallings
Ray
R
Green
Andrew
A
Fitzgerald
Michael
M
Gill
Michael
M
D000293:Adolescent; D001321:Autistic Disorder / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D003582:Cytogenetics / Q000379:methods; D017353:Gene Deletion; D006801:Humans; D007621:Karyotyping; D008297:Male; D017354:Point Mutation / Q000235:genetics