Recurrent 16p11.2 microdeletions in autism

• Published in: Human molecular genetics Vol. 17; no. 4; pp. 628 - 638
• Main Authors: Kumar, Ravinesh A., KaraMohamed, Samer, Sudi, Jyotsna, Conrad, Donald F., Brune, Camille, Badner, Judith A., Gilliam, T. Conrad, Nowak, Norma J., Cook, Edwin H., Dobyns, William B., Christian, Susan L.
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 14.02.2008; Oxford Publishing Limited (England)
• Subjects: Autistic Disorder - genetics; Base Sequence; Biological and medical sciences; Case-Control Studies; Child; Child clinical studies; Chromosome Breakage; Chromosome Deletion; Chromosomes, Artificial, Bacterial - genetics; Chromosomes, Human, Pair 16 - genetics; Developmental disorders; DNA Primers - genetics; Female; Fundamental and applied biological sciences. Psychology; Gene Frequency; Genetic Predisposition to Disease; Genetics of eukaryotes. Biological and molecular evolution; Humans; In Situ Hybridization, Fluorescence; Infantile autism; Male; Medical sciences; Microsatellite Repeats; Molecular and cellular biology; Pedigree; Phenotype; Polymerase Chain Reaction; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; Autism; Genetics; Developmental disorder; Recurrent

Autism is a childhood neurodevelopmental disorder with a strong genetic component, yet the identification of autism susceptibility loci remains elusive. We investigated 180 autism probands and 372 control subjects by array comparative genomic hybridization (aCGH) using a 19K whole-genome tiling path...