Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype

• Published in: American journal of human genetics Vol. 80; no. 4; pp. 633 - 649
• Main Authors: 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, Shaw, Chad, Shi, Xin, Weissenberger, George, Withers, Marjorie, Yatsenko, Svetlana A., Zackai, Elaine H., Stankiewicz, Pawel, Lupski, James R.
• Format: Journal Article
• Language: English
• Published: Chicago, IL Elsevier Inc 01.04.2007; University of Chicago Press; Cell Press; The American Society of Human Genetics
• Subjects: 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

The duplication 17p11.2 syndrome, associated with dup(17)(p11.2p11.2), is a recently recognized syndrome of multiple congenital anomalies and mental retardation and is the first predicted reciprocal microduplication syndrome described—the homologous recombination reciprocal of the Smith-Magenis synd...