Autism-associated familial microdeletion of Xp11.22

• Published in: Clinical genetics Vol. 74; no. 2; pp. 134 - 144
• Main Authors: Qiao, Y, Liu, X, Harvard, C, Hildebrand, MJ, Rajcan-Separovic, E, Holden, JJA, Lewis, MES
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.08.2008; Blackwell
• Subjects: array comparative genomic hybridization; Autism; autism spectrum disorder; Autistic Disorder - etiology; Autistic Disorder - genetics; Biological and medical sciences; Birth defects; Case studies; Case-Control Studies; Child clinical studies; Chromosome Deletion; Chromosomes, Human, X - genetics; Cleft Lip - genetics; cleft lip/palate; Cleft Palate - genetics; Developmental disorders; Family Health; Female; Fundamental and applied biological sciences. Psychology; Gene Deletion; General aspects. Genetic counseling; Genetics of eukaryotes. Biological and molecular evolution; Genomics; Histone Demethylases; Humans; Infantile autism; Male; Mass Screening; Medical genetics; Medical sciences; Membrane Proteins - deficiency; Membrane Proteins - genetics; Mental Disorders - genetics; Mental Retardation, X-Linked - genetics; microdeletion of Xp11.22; Molecular and cellular biology; Neurology; Pedigree; Protein-Serine-Threonine Kinases - deficiency; Protein-Serine-Threonine Kinases - genetics; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; Reverse Transcriptase Polymerase Chain Reaction; Siblings; Transcription Factors - deficiency; Transcription Factors - genetics; X Chromosome Inactivation; X-linked mental retardation; Sex linked character; Microdeletion; Cleft palate; Cleft lip; Developmental disorder; cleft lip/palate; Mental retardation; Genetics; X-Chromosome; Neurological disorder; autism spectrum disorder; Human; Nervous system diseases; Stomatology; Family study; Congenital disease; Genetic disease; Autism; Pervasive developmental disorder; Comparative genomic hybridization; Malformation; array comparative genomic hybridization; Intellectual deficiency; microdeletion of Xp11.22; Oral cavity disease; X-linked mental retardation

We describe two brothers with autistic disorder, intellectual disability (ID) and cleft lip/palate with a microdeletion of Xp11.22 detected through screening individuals with autism spectrum disorders (ASDs) for microdeletions and duplications using 1‐Mb resolution array comparative genomic hybridiz...