Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype - Potocki, Lorraine; Bi, Weimin; Treadwell-Deering, Diane; Carvalho, Claudia M.B.; Eifert, Anna; Friedman, Ellen M.; Glaze, Daniel; Krull, Kevin; Lee, Jennifer A.; Lewis, Richard Alan; Mendoza-Londono, Roberto; Robbins-Furman, Patricia; et al. (American journal of human genetics, 2007)
Keywords: Abnormalities, Multiple - genetics; Adolescent; Autism; Autistic Disorder - genetics; Biological and medical sciences; Child; Child clinical studies; Child, Preschool; Chromosome Aberrations; Chromosome Mapping; Chromosomes, Human, Pair 17 - genetics; Developmental disorders; Electrophoresis, Gel, Pulsed-Field; Female; Fundamental and applied biological sciences. Psychology; Gene Dosage - genetics; General aspects. Genetic counseling; Genetic disorders; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Genotype & phenotype; Humans; In Situ Hybridization, Fluorescence; Infantile autism; Intellectual Disability - genetics; Male; Medical genetics; Medical sciences; Molecular and cellular biology; Phenotype; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; Syndrome; Characterization; Human; Autism; Nervous system diseases; Phenotype; Genetics; Developmental disorder; Neurological disorder; Posology; Syndrome; Interval